No abstract

The objective of our study was to appraise the incidence and significance of persistent right umbilical vein (PRUV), the most common foetal venous aberration. Based on a south Indian antenatal cohort, we identified 23 cases of PRUV amongst 20,452 foetuses of consecutive pregnancies, from 2009 to 2014, yielding an incidence of 1 in 889 total births (0.11%). The median maternal age was 24 (IQR, 22-26) years, and median gestational age at diagnosis was 23 (IQR, 22-24) weeks. Intrahepatic drainage of PRUV was seen in 91.3% cases. In three cases (13%), ductus venosus was absent. In 52.2% of the cases, additional major abnormalities were observed - predominantly cardiovascular (39.1%). The common minor marker was single umbilical artery (13%). The karyotype was found to be normal in six cases (26%) which underwent invasive testing. When associated anomalies were inconsequential or absent, the postnatal outcome was good, which reflected in 60.9% of our cases.

The anatomic causes for fetal right atrial dilatation with tricuspid regurgitation include Ebstein anomaly, tricuspid dysplasia, unguarded tricuspid orifice, and Uhl anomaly. Unguarded tricuspid orifice is characterized by complete or partial agenesis of the tricuspid valvular and subvalvular structures. It is commonly associated with pulmonary atresia. Its prenatal diagnosis is usually associated with unfavorable prognosis. We present a prenatally diagnosed case of fetal unguarded tricuspid orifice with description of its diagnostic workup, along with a review of literature, to enhance the understanding of this rarely reported entity. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:370-374, 2017.

The chief objectives of our study were to assess the incidence and significance of fetal aberrant right subclavian artery (ARSA) in a nonreferral cohort of south Indian antenatal woman, and to compare it with other second trimester markers of Down syndrome. This was a prospective study conducted at Edappal hospital, India. After satisfying inclusion and exclusion criteria, 2000 consecutive antenatal women, seeking prenatal care and planning delivery at the same center, were recruited in a consecutive fashion. ARSA was identified as a retrotracheal arterial vessel in the axial three vessel trachea view, coursing towards right axilla. During February 2015 to January 2016, nine cases of ARSA were identified amongst 2000 antenatal women, yielding an incidence of 0.45 % (95 % CI 0.2-0.9 %). Of these, eight cases (8/9, 89 %) were isolated with normal karyotype, and negative for 22q11 microdeletion. Down syndrome was prenatally diagnosed in four cases (4/2000, 0.2 %), with ARSA detected in one case [sensitivity-25 %, specificity-99.6 %, positive likelihood ratio (?LR)-62.5 %, negative likelihood ratio (-LR)-0.75 %; Odds ratio 82.8 %, 95 % CI 7.8-883]. Of the significant second trimester minor markers, an absent nasal bone was the most common (13/ 2000, 0.65 %), followed by ARSA. All the isolated cases had normal neonatal outcomes. ARSA is relatively common second trimester aneuploidy marker, associated with high global ?LR but nil isolated ?LR. Indication for fetal karyotype in isolated cases seems to be weak.

We report a case of a rare balanced Robertsonian translocation, t (21q; 21q) in one of the parents that results in adverse pregnancy outcome in 100 % of cases, either first trimester miscarriages or Down syndrome in all viable fetuses. The case highlights the role of optimum genetic evaluation of all cases of reproductive disorders as they can have profound effect over prognosis and further management.

Atelosteogenesis type 2 also known as atelosteogenesis de la Chapelle type, De la Chapelle dysplasia, McAlister dysplasia or neonatal osseous dysplasia 1 is an extremely lethal osteochondrodysplasia with unknown incidence. Very few cases have been reported in the literature. We present a case with findings of prenatal ultrasound, autopsy and cytogenetic work up with report of a novel familial mutation.

Fetal hypothyroid goiters are observed in 1:40,000 births. They are usually attributed to underlying thyroid glandular dysgenesis, dyshormonogenesis, or an adverse effect of maternal anti-thyroid drugs. The objective of the present case report is to outline the details of a twin gestation with hypothyroid goiter in both fetuses managed by intramniotic levothyroxine administration. The index pregnancy was of dichorionic twin gestation in which the mother was receiving oral propylthiouracil. Fetal goiters were first detected in ultrasound performed at 31 weeks of gestation. The hypothyroid nature of goiters was confirmed by cordocentesis from both sacs. Intramniotic administration of 100 μg of levothyroxine into both sacs was performed twice at the interval of two weeks. The response to treatment was assessed by amniotic fluid thyroid hormone levels, and serial measurement of thyroid gland volume. Emergency cesarean section was performed at 35 weeks due to preterm labor. Both fetuses were euthyroid at birth and were discharged in good health.

The authors present a case of prenatally diagnosed fetal terminal 4q deletion in the cytoband 4q33q35.2, inherited from the mother. The index pregnancy was referred at 28 +2 weeks of gestation for polyhdramnios. Prior to performing the scan, distinctive facial features were noted in the mother. Target scan confirmed polyhdramnios, and revealed fetal retrognathia. The fetal karyotype reported a terminal 4q33>ter deletion, which was further delineated by chromosomal microarray analysis. Subsequently, maternal karyotype revealed identical deletion. Subtle fetal ultrasound abnormalities should receive meticulous assessment, and evaluation using the currently available wide range of cytogenetic and molecular gene tests.