Donald School Journal of Ultrasound in Obstetrics and Gynecology

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2020 | April-June | Volume 14 | Issue 2

EDITORIAL

Frank A Chervenak, Laurence B McCullough, Asim Kurjak

Professionally Responsible Counseling When a Fetal Anomaly is Diagnosed by Ultrasound

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:4] [Pages No:79 - 82]

PDF  |  DOI: 10.5005/jp-journals-10009-1642  |  Open Access |  How to cite  | 

Abstract

Ethics plays an essential role in the clinical management of pregnancies complicated by fetal anomalies diagnosed by ultrasound. Utilizing the prima facie ethical principles of beneficence and respect for autonomy; this paper first explicates the ethical concept of the fetus as a patient. This ethical concept provides the basis for a comprehensive approach to counseling pregnant women about the management of pregnancies complicated by fetal anomalies. Practical; ethically justified guidance is given for counseling about decisions both before and after viabilities

PICTURE OF THE MONTH

Toshiyuki Hata, Aya Koyanagi, Tomomi Yamanishi, Saori Bouno, Riko Takayoshi, Takahito Miyake

HDlive Silhouette for Diagnosis of Congenital Dacryocystocele

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:2] [Pages No:83 - 84]

Keywords: Antenatal diagnosis, Congenital dacryocystocele, HDlive Silhouette, Orbital anatomy

PDF  |  DOI: 10.5005/jp-journals-10009-1631  |  Open Access |  How to cite  | 

Abstract

We present our experience of diagnosing unilateral congenital dacryocystocele using HDlive Silhouette at 32 weeks and 6 days of gestation. A right congenital dacryocystocele was noted in a routine third-trimester fetal anomaly scan. HDlive Silhouette clearly showed the spatial relationships among the dacryocystocele, lens, eyeball, and optic nerve. This technique may provide additional information for the precise assessment of fetal orbital and periorbital anatomical structures.

REVIEW ARTICLE

Safonova Inessa

Ultrasound Examination of the Uterine Scar after Cesarean Section: Isthmocele, Scar Pregnancy, Niche of Myometrium, and Low Uterine Segment Thickness

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:7] [Pages No:85 - 91]

Keywords: Isthmocele, Scar pregnancy, Ultrasound, Uterine scar after cesarean section, Vaginal birth trial

PDF  |  DOI: 10.5005/jp-journals-10009-1632  |  Open Access |  How to cite  | 

Abstract

The article is concerned with a review of contemporary concepts of the possibilities of ultrasound (US) evaluation of the uterine scar after the cesarean section (USCS) and provides clinical examples illustrated with US images. The possibilities of ultrasonographic evaluation of USCS abnormalities in nonpregnant patients as well as in the early stages of pregnancy are considered. The images of rare USCS abnormalities such as symptomatic isthmocele, scar pregnancy, and uterovesical fistula are presented. The possibilities of US for diagnostics of scar abnormalities in later pregnancy terms for prediction of successful vaginal delivery have been analyzed.

REVIEW ARTICLE

Safonova Inessa

Atypical Rare Intertwin Transfusions: Twin Anemia Polycythemia Sequence and Acute Peripartum Intertwin Transfusion

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:5] [Pages No:92 - 96]

Keywords: Acute intertwin transfusion, Monochorionic twins, Twin anemia-polycythemia sequence

PDF  |  DOI: 10.5005/jp-journals-10009-1634  |  Open Access |  How to cite  | 

Abstract

The twin anemia-polycythemia sequence (TAPS) and acute (peripartum) intertwin transfusion (AITT) are rare forms of transfusions between twins in monochorionic (MC) multiple pregnancy. These types are met less often than twin-to-twin transfusion syndrome (TTTS), the prevalence is 2–3% for TAPS after laser ablation and 3–6% spontaneously and 1.5–2.5% for AITT in comparison with 9–15% for TTTS in MC twins. The understanding of natural history and staging of the development of anemia-polycythemia helps explain some cases of unexpectedly unfavorable perinatal outcomes in newborn twins with the considerable hematological discordance without presence of remarkable prenatal signs of twin-to-twin transfusion. As opposed to the conventional wisdom, TAPS may be associated with the significant amniotic fluid discordance besides typical US signs such as discrepancy of twins’ peak systolic velocity in middle cerebral artery (MCA PSV). The TAPS may not have the progredient antenatal pattern. In discordant values of PSV MCA, the extended monitoring of the fetal cardiovascular profile is required to estimate the degree of perinatal risk as well as select the optimal time for delivery. Postnatally, the differential diagnosis of AITT and TAPS is based on the logics of retrospective of fetal MCA PSV values. The AITT diagnosis may be assumed for the MC twins with normal antenatal MCA Doppler velocities and episodes of bradycardia of fetuses during the delivery. At the same time, TAPS that is being developed just before the delivery can hardly be certainly ruled out. This article focuses on the review of current views as for perinatal diagnosis of rare forms of intertwin transfusion as well as on particularities of some clinical cases with unexpected association of symptoms. It is shown that some unusual symptoms of TTTS and TAPS as well as their mixed forms influence the US images and complicate the classification, staging, and prognosis of the abnormalities.

REVIEW ARTICLE

Zorancho Petanovski, Emilija Petanovska Kostova

Everyday Practice of 2D/3D Vaginal Ultrasound in Reproductive Gynecology

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:20] [Pages No:97 - 116]

Keywords: 2D/3D ultrasonography, 3D Doppler, Reproductive gynecology

PDF  |  DOI: 10.5005/jp-journals-10009-1640  |  Open Access |  How to cite  | 

Abstract

The key point of this review is to evaluate the diagnostic capability of the initial 2D/3D vaginal ultrasound (US) for the most common conditions that have negative impact on the reproductive potential in women. From our experience with 2D/3D transvaginal US as the initial examination in more than 10,000 patients in the last couple of years, we choose specific cases of different pathologies such as fibroids, endometrial polyps, endometrial synechiae, uterine congenital anomalies, polycystic ovaries (PCOs), ovarian follicular monitoring, and endometrial receptivity assessment. Vaginal US is the method of choice for initial examination in evaluation of the reproductive potential in female patients. The 2D vaginal US examination gives only preliminary data, while the 3D vaginal US increases the efficiency and predictive value of the examination. Some pathologies detected on 2D vaginal US such as uterine anomalies, in general, indicate the presence of the anomaly, while 3D vaginal US fully detects the type of uterine anomalies. Doppler techniques bring detection of neovascularization in specific pathologies and give a view of the vascularization in general, which is essential in this field. Combination of 2D and 3D US is a powerful tool in the hands of a gynecologist in everyday practice. Improvement in 3D, 3D Doppler, and power Doppler vaginal US supplemented with new software tools rises the predictive value of US in the diagnosis of female reproductive system pathology and makes it equal with other diagnostic tools such as magnetic resonance imaging. On the contrary, 2D and 3D US examination are less traumatic for the patients and are less expensive.

REVIEW ARTICLE

Sonal Panchal, Chaitanya Nagori

Cyclical Changes in Ovarian Angiogenesis and Its Controls

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:8] [Pages No:117 - 124]

Keywords: Cyclical vascular changes in ovary, Ovarian angiogenesis, Ovarian vascularity

PDF  |  DOI: 10.5005/jp-journals-10009-1635  |  Open Access |  How to cite  | 

Abstract

The ovary is supplied by the ovarian artery and the ovarian branch of the uterine artery. Ovarian endocrinological function and ovulation is dependent on the establishment and continual remodeling of a complex vascular system. In the ovary, the development of new capillaries from preexisting ones (angiogenesis) is a complex event regulated by several hormones and angiogenic factors and also cellular changes. Expression of hormones and angiogenic factors varies throughout the cycle. Understanding of these factors and the control mechanism is essential to understand and correct abnormalities of ovulation and improve the treatment outcome of ovulation induction, in patients with subfertility.

Original Article

Ritsuko K Pooh, Megumi Machida, Takako Nakamura, Nana Matsuzawa, Hideaki Chiyo

Early Sonographic Findings for Suspecting de novo Single-gene Mutation

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:6] [Pages No:125 - 130]

Keywords: Exome sequencing, Fetus, First-trimester, Single gene mutation, Ultrasound

PDF  |  DOI: 10.5005/jp-journals-10009-1643  |  Open Access |  How to cite  | 

Abstract

Introduction: Currently, many obstetrics departments widely use prenatal genetic screening tests in the first trimester, including noninvasive prenatal genetic tests (NIPT), sonographic examination, and combined tests. However, many cases with de novo single-gene mutations are detected after birth. The introduction of next-generation sequencing (NGS) needs careful pretest and posttest counseling, informed consent, and trio-based sequencing of the fetus and parents. Next-generation sequencing turnaround time has been reduced, but it takes a long period from an ultrasound anomaly scan at 18–20 weeks to post-NGS counseling. Ideally, the starting point of the anomaly scan should be early. Still, it has not yet been concluded whether there are clear criteria for the fetal indication to NGS in the first trimester of pregnancy. Aim: To investigate first-trimester sonographic findings in cases with nonfamilial de novo single-gene mutation and to discuss early fetal findings as criteria for prenatal NGS test. Materials and methods: For five months between August and December in 2019, after sonographic examinations between 11 and 13 gestational weeks for all fetuses, chorionic villous sampling (CVS) was done for suspected cases. DNA was extracted immediately after CVS for a rapid test of quantitative fluorescence-polymerase chain reaction (QF-PCR) and further examinations, such as, microarrays and exome sequencing. Confirming normal G-banding results, followed by further examinations of exome sequencing. Results: Seven cases with de novo single-gene mutations were detected by target exome sequencing; one case of Costello syndrome, one of Campomelic dysplasia, one of Cornelia de Lange syndrome, and four of Noonan syndrome. All of those gene mutations were confirmed by following Sanger sequencing. All seven cases had common sonographic findings, increased NT ≥5 mm, low-set ears, and micrognathia. Three Noonan syndrome cases with PTPN11 mutation had tachycardia, but Noonan with RAF1 mutation had normal heart rate. Limb abnormality or contracture was detected in one case of Noonan syndrome, Campomelic dysplasia, and Cornelia de Lange syndrome. Conclusion: Nonfamilial de novo single-gene disorders can be suspected in the first trimester by ultrasound findings of NT ≥5 mm, low-set ears, and micrognathia from our case series. Further case studies will be required.

Original Article

Edin Medjedović, Zijo Begic, Milan Stanojevic, Edin Begic, Amer Iglica, Nedim Begic, Asim Kurjak

Ultrasound in the Service of Early Diagnosis and Treatment of Congenital Heart Defects: Bosnian and Herzegovinian Experience

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:5] [Pages No:131 - 135]

Keywords: Congenital heart defects, Echocardiography, Screening

PDF  |  DOI: 10.5005/jp-journals-10009-1633  |  Open Access |  How to cite  | 

Abstract

Introduction: Congenital heart defects (CHDs) are the most common congenital anomalies in the pediatric population, representing about one-third of all congenital anomalies in infants. Modern pediatric cardiology deals mainly with CHD. Echocardiography is a well-established diagnostic method in fetal and pediatric cardiology. The paper aimed to show the importance of early diagnosis of CHD in Bosnia and Herzegovina by fetal and pediatric echocardiography to foster the treatment if necessary and to present the outcome of children with early prenatal screening and postnatal diagnosis of CHD. Material and methods: In a retrospective study, we investigated all patients with prenatally detected CHDs at the Department of Obstetrics and Gynecology, University Clinical Center Sarajevo, Bosnia and Herzegovina, in the 8 year period (2012–2020). Results: During this 8 year period, out of 2,620 pregnant women in whom fetal echocardiography was performed as a screening, 64 (2.4%) fetuses were suspected for CHD of which the diagnosis was confirmed postnatally. Out of 64 patients with CHDs, hemodynamically significant CHDs were diagnosed in 22 (34.4%), while in 42 (65.6%) CHDs were mild and hemodynamically nonsignificant. In 16 (25.0%) patients, the CHD was associated with other congenital malformations (syndrome, chromosomopathy). In 28 (43.8%), atrial septal defect (ASD) and ventricular septal defect (VSD) were isolated CHDs, while in 14 they were syndromic. Atrioventricular septal defect (AVSD) was isolated in 1, while in 2 patients it was part of trisomy 21. Other extracardiac congenital anomalies were trisomy 21 in 5 infants, as well as Holt Oram syndrome in 1 infant with VSD. A total of 5 (7.8%) out of 64 patients died (one termination of pregnancy after 18 weeks of gestation, four postnatal deaths). Conclusion: The importance of fetal screening and prenatal diagnosis of patients with CHDs, as well as the postnatal confirmation thereof, enables the timely planning of an intervention in accordance with the needs and better communication and better understanding with the parents. This approach is important for healthcare providers as well and could be proposed as the universal approach at the national level in entire Bosnia and Herzegovina.

Original Article

Sudha Agrawal, Sonal Panchal, Chaitanya Nagori

Relationship between Follicular Volume, Oocyte Competence, and Blastocyst Development in ART

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:8] [Pages No:136 - 143]

Keywords: 2 pronuclear, 3D Ultrasonography, ART, Blastocyst, Cumulus oophorus complex, Follicular volume, ICSI, Medium and large follicles, Oocytes, Small, SonoAVC

PDF  |  DOI: 10.5005/jp-journals-10009-1636  |  Open Access |  How to cite  | 

Abstract

Aim: To analyze oocyte competence in assisted reproductive technology (ART) using gonadotrophin releasing hormone (GNRH) antagonist stimulation protocol with regard to maturity, fertilization, and blastocyst development in relation to follicular volume (FV), measured by three-dimensional (3D) ultrasonography (USG) using SonoAVC software. Materials and methods: This was a prospective observational single-center study conducted at our center from April 2019 to September 2019 in which 30 cases of ovum pickup were evaluated. A single cycle of in vitro fertilization (IVF) per patient was considered. A controlled ovarian stimulation was done by GNRH antagonist induction protocol. Gonadotropin dose calculation was based on the scoring system designed on the basis of parameters which included age, body mass index (BMI), and USG parameters on baseline scan which included antral follicle count, ovarian volume, stromal resistance index (RI), and stromal peak systolic velocity (PSV). Stimulation was started on day 2 of the cycle. Scans at regular interval commencing from day 5 or day 6 of the stimulation were done to track follicular and endometrial development. Multiple follicular development due to controlled ovarian hyperstimulation in ART causes growth of follicles of different sizes and functional activity that will contain oocyte at different maturation status. So, this multiple follicular development results in polygonal shape of the follicles where two-dimensional (2D) measurements are not accurate of its size. Total number of follicles and volume of each follicle were evaluated on the day of trigger using SonoAVC software by 3D USG. Oocyte retrieval was done 35 hours after trigger, and metaphase 2 (M2) oocytes, fertilization, and blastocyst development were tracked according to 3D follicular volume (FV) with the help of our embryologist. Follicles were grouped according to FV, into three arbitrary groups, which included 313 small (0.3–0.9 mL, 8–12 mm), 414 medium (1–6 mL, 13–23 mm), and 11 large (>6 mL, ≥24 mm) follicles, all of which were aspirated and evaluated. The cumulus oophorus complex (COC) recovery rate was statistically significant (p < 0.0001) in small follicles (63%) compared with medium (86.4%) and large (63.6%) follicles. However, fertilization rate did not differ when calculating the 2PN/M2 between the three follicle groups (2 pronuclear (PN)/M2: 76.9% in small, 81.9% in medium, 60% in large, p > 0.2). Additionally, blastocyst rate per retrieved M2 oocyte was observed in all three groups (36.5% vs 46.2% vs 40%), respectively, but the difference was not statistically significant. Results: Our data indicate that the optimal follicular size for a high yield of good quality blastocysts is 13–23 mm/1–6 mL. However, oocytes derived from small follicles (8–12 mm/0.3–0.9 mL) still have the capacity for normal development and fertilization. Conclusion: Earlier clinical practice suggests aspiration of follicles of only 1–6 mL volume, but based on our results, aspiration of small follicles (0.3–0.9 mL/8–12 mm) should be a routine procedure, which would help for better oocyte yield and blastocyst rate.

Original Article

Ashish Varma, Sonal Panchal, Chaitanya Nagori, Manish Thaker

Correlational Study of Endometrial Length and Thickness by 2D Ultrasound Parameter to the Endometrial Volume Obtained by 3D Ultrasound

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:6] [Pages No:144 - 149]

Keywords: 3D endometrium, Endometrial length, Endometrial thickness, Endometrial volume

PDF  |  DOI: 10.5005/jp-journals-10009-1637  |  Open Access |  How to cite  | 

Abstract

The study was conducted to evaluate correlation between the endometrial length and thickness on two-dimensional (2D) ultrasound to the endometrial volume calculated by three-dimensional (3D) ultrasound virtual organ computer-aided analysis (VOCAL). All patients having transvaginal scans (TVSs) at our center were included and patient having fluid in endometrium, polyp, fibroid, and pregnancy were excluded. Two-dimensional measurements of uterine length, endometrial length, effective endometrial length, endometrial thickness, and endometrial breadth in transverse section were taken. Endometrial volume was taken by 3D ultrasound software VOCAL with rotational step of 9°. A multivariate regression analysis was carried out using Excel add in stat tool software, and the 2D parameters taken were correlated with the volume obtained by VOCAL, and an equation for volume is also derived with the same multivariate regression and compared with the volume obtained by VOCAL. The analysis shows that the equation is significant as R2 (coefficient of determination) is significant (F statistics is 39.26 whose p value is <0.0001), and almost all the regression coefficients are significant except that for endo breadth in transverse section. R2 = 0.5241 indicates that almost 52% of the variation in the endometrial volume has been explained by the considered independent variables in the equation. The scatterplot graph (Fig. 1) shows a positive relationship, and no outlier is observed. Also, the residue is normally distributed which is observed in the graph. The residual graph follows normality assumption and so the equation is applicable (Fig. 2). According to these results, the most correlating 2D parameters with 3D calculated endometrial volume were endometrial length and endometrial thickness. This also conveys that when endometrium is evaluated by 2D ultrasound for its receptivity, it is essential to include endometrial length along with endometrial thickness for better prediction or evaluation of endometrial receptivity.

Original Article

Sonal Panchal, Chaitanya Nagori, Manish Thaker

Doppler and 3D Power Doppler Assessment of the Endometrium and its Correlation to Abortion Rates

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:7] [Pages No:150 - 156]

Keywords: 3D power Doppler, Endometrial vascularity, Endometrial volume, Miscarriage rate

PDF  |  DOI: 10.5005/jp-journals-10009-1638  |  Open Access |  How to cite  | 

Abstract

Introduction: Endometrial vascularity has been documented as an important factor for the assessment of endometrial receptivity. This study was done to evaluate whether the vascularity of the endometrium is also predictive of prognosis of pregnancy. Materials and methods: In total, 850 patients undergoing in vitro fertilization (IVF) and frozen embryo transfer were recruited for the study. Endometrial preparation was done by artificial cycle protocol in all by estradiol valerate. Evaluation of the endometrium for its thickness and its vascularity as seen on B-mode ultrasound, power Doppler (PD), and pulsed-wave Doppler. Endometrial volume (EV) was calculated by three-dimensional (3D) ultrasound and virtual organ computer-aided analysis (VOCAL) and after acquiring volume of the endometrium with PD. A quantitative assessment of the global vascularity of the endometrium was done by 3D PD to calculate vascularity index (VI), flow index (FI), and vascularity flow index (VFI) for the endometrium. Post-embryo transfer, β-hCG was checked for confirmation of pregnancy in all the patients on day 14 after the embryo transfer, and in all positive cases, ultrasound was done after 10 days of positive β-hCG. All patients with pregnancy were followed up by ultrasound for the entire first trimester and abortions were documented. Results: Patients with endometrial vascularity in zones 3 and 4, RI < 0.6, had a high conception rate and low miscarriage rate with EV of <1.5 mL, not a single pregnancy was noted. If the endometrial FI before the trigger for ovulation is between 37 and 41 and endometrial VFI was between 25 and 27, not only there are significantly higher chances of leading to conception, but these values also carry a high chance of ongoing pregnancy.

CASE REPORT

Riko Takayoshi, Toshiyuki Hata, Aya Koyanagi, Ai Sakamoto, Nobutsugu Oguni, Tadashi Hashimoto, Tomoyoshi Takata, Takahito Miyake

Three-dimensional Ultrasound Diagnosis of Circumvallate Placenta Early in Second Trimester of Pregnancy

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:4] [Pages No:157 - 160]

Keywords: Circumvallate placenta, Early second trimester, HDlive, Prenatal diagnosis, Three-dimensional ultrasound

PDF  |  DOI: 10.5005/jp-journals-10009-1630  |  Open Access |  How to cite  | 

Abstract

We present three patients with a circumvallate placenta diagnosed by two-dimensional (2D)/three-dimensional (3D) ultrasound and HDlive early in the second trimester of pregnancy. The characteristic 2D sonographic findings were a thick placenta with its edges protruding into the uterine cavity. The unique 3D ultrasound characteristic of a circumvallate placenta early in the second trimester is a pizza-like appearance. Moreover, 3D ultrasound and HDlive can clearly differentiate partial from complete circumvallate placentas. Three-dimensional ultrasound and HDlive provide additional, useful information for the early second-trimester diagnosis of a circumvallate placenta.

CASE REPORT

Toshiyuki Hata, Riko Takayoshi, Aya Koyanagi, Ai Sakamoto, Nobutsugu Oguni, Tadashi Hashimoto, Tomoyoshi Takata, Takahito Miyake

Vasa Previa Depicted by Simple Clear Flow

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:3] [Pages No:161 - 163]

Keywords: Antenatal diagnosis, Low-lying placenta, Power Doppler, Simple Clear Flow, Vasa previa

PDF  |  DOI: 10.5005/jp-journals-10009-1628  |  Open Access |  How to cite  | 

Abstract

We present our experience of diagnosing vasa previa using Simple Clear Flow (SCF) at 32 weeks and 1 day of gestation. A 32-year-old pregnant Japanese woman was reexamined using transvaginal SCF due to suspected vasa previa on previous routine obstetric examination. Simple Clear Flow clearly depicted a small velamentous artery and vein at the periphery of the posterior low-lying placenta near the internal cervical os. At 37 weeks of gestation, emergency cesarean section was performed due to irritable uterine contractions, resulting in a viable, single female newborn weighing 2,795 g. Placental examination showed velamentous insertion of the umbilical cord with aberrant vessels. Transvaginal SCF can clearly demonstrate small aberrant vessels of the umbilical cord without Doppler blooming and may become a useful modality for the antenatal diagnosis of vasa previa.

CASE REPORT

Fatima AL-khawaja, Mary J Madut, Gamal Abdo, Helmi Noor, Badreldeen Ahmed

Fetal Holoprosencephaly

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:3] [Pages No:164 - 166]

Keywords: Antenatal ultrasound, Fetal malformation, Holoprosencephaly

PDF  |  DOI: 10.5005/jp-journals-10009-1629  |  Open Access |  How to cite  | 

Abstract

Holoprosencephaly is a birth defect that leads to an abnormal brain development where the brain fails to divide into two hemispheres. Possible causes are environmental or genetic factors. Holoprosencephaly can include craniofacial abnormalities in most of the cases. Here we report a case of delayed diagnosis of holoprosencephaly with cyclopia, proboscis, and ethmocephaly.

CASE REPORT

Rohan D Patel, Dinesh M Patel, Sonal Panchal, Shreya R Patel, Chaitanya Nagori

Rare and Interesting Case of Urorectal Septum Malformation

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:5] [Pages No:167 - 171]

Keywords: Cloacal abnormality, Urorectal septum, URSM sequence

PDF  |  DOI: 10.5005/jp-journals-10009-1639  |  Open Access |  How to cite  | 

Abstract

The urorectal septum malformation sequence is a rare malformation involving various organ systems, mainly gastrointestinal and genitourinary. Most of the malformations are difficult to be diagnosed by ultrasound antenatally but are easily diagnosed postnatally either soon after birth or within first year of life. We are presenting a unique case of urorectal malformation, which has survived till adulthood without any complications.

CASE REPORT

Edin Medjedović, Amer Iglica, Nedim Begic, Emir Mahmutbegovic, Zijo Begic, Alma Suljevic, Edin Begic

Holt–Oram Syndrome: The Importance of Prenatal Detection

[Year:2020] [Month:April-June] [Volume:14] [Number:2] [Pages:3] [Pages No:172 - 174]

Keywords: Congenital heart defect, Holt–Oram syndrome, Prenatal diagnosis, Screening

PDF  |  DOI: 10.5005/jp-journals-10009-1644  |  Open Access |  How to cite  | 

Abstract

Aim: The aim of the paper is to present prenatal diagnosis of Holt–Oram syndrome (HOS), pregnancy management, out-of-hospital birth in the 33rd week of gestation, and postnatal treatment. Case description: The following fetal malformations were detected by ultrasound on the 30th week of gestation: bilateral upper lip and palate cleft, bilateral upper limb mesomelia with bilateral ulnar deviation of the wrist with absent thumb, ventricular septal defect, and distension of the colon. The amniotic fluid index was 23. Holt–Oram syndrome was suspected. During the ultrasound examination, a Kurjak antenatal neurodevelopmental test (KANET) was scored to be 8. At home, at the 33rd week of pregnancy, a premature rupture of the amniotic membranes occurred, followed by uterine contractions, and the patient was urgently transported to the hospital. During the transportation attended by the midwife, premature baby was delivered in the car not far from the hospital, where the baby was admitted at the age of 7 minutes. The baby was admitted to the neonatal intensive care unit with all prenatally detected congenital malformations present during the first check-up. The baby was in the life-threatening condition and died at the age of 48 hours. Conclusion: Holt–Oram syndrome should be prenatally detected in order to enable better prenatal counseling with the possibility of the interruption of pregnancy, which may be the option in severe cases, or if parents opt for continuation of pregnancy to discuss with the all possible options of pregnancy and postnatal outcome.

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