Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.

We report a fetus with prenatal ultrasound at 21 gestational weeks showing left cystic renal dysplasia with subcapsular cysts and echogenic parenchyma, right echogenic kidney with absent corticomedullary differentiation, and left congenital diaphragmatic hernia (CDH) with bowel herniation, with intestinal atresia (IA) found on postmortem examination. Whole genome sequencing of fetal blood DNA revealed a heterozygous pathogenic variant c.344 + 2 T>G in the HNF1B gene (NM_000458).

The Use of Somatex Shunt for Fetal Pleural Effusion: A Cohort of 8 Procedures.

Introduction: Fetal pleural effusion may require in utero shunting which is associated with procedure-related complications.

Objective: To evaluate the efficacy and complications of the newly designed Somatex shunt in treating fetal pleural effusion.

Methods: Consecutive cases with primary fetal pleural effusion who were treated with the Somatex shunt between 2018 and 2019 were evaluated.

Hypoechoic liver in fetuses with trisomy 21.

The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses.

Pitfalls in assessing chorioamnionicity: novel observations and literature review.

Accurate diagnosis of chorioamnionicity in multiple pregnancies is the key to appropriate clinical management of multiple gestation. Although prenatal ultrasound assessment of chorioamnionicity is well established and highly accurate if performed in early pregnancy, exceptions and artifacts arise from anatomic variations in multiple pregnancies and unusual sonographic features do exist. We have summarized our own experiences and reports from the literature on these pitfalls as follows: (1) discordant fetal sex in monochorionic pregnancies due to sex chromosome abnormalities, genital malformation in 1 fetus, or dizygotic twins forming a monochorionic placenta; (2) separate placental masses in monochorionic pregnancies due to bipartite placenta; (3) false-negative and false-positive λ sign can arise for various reasons, and in partial monochorionic/dichorionic placentas both T and λ sign may co-exist; (4) intrauterine synechia appearing as a thick and echogenic intrauterine septum may lead to erroneous diagnosis of dichorionic twins; and (5) errors in ascertaining amnionicity by the visualization of thin intertwin amniotic membranes and the number of yolk sacs.

Prenatal Diagnosis of a Retroesophageal Left Brachiocephalic Vein: Two Case Reports.

A retroesophageal left brachiocephalic vein is an extremely rare anomaly and has only been reported in 6 postnatal cases. Two prenatally diagnosed cases are reported. On the 3-vessel view, the vein appears as an aberrant vessel transversely coursing behind the aorta and trachea, which subsequently drains into the superior vena cava, giving rise to a U-shaped configuration.

Pseudoamniotic Band Syndrome after In Utero Intervention for Twin-to-Twin Transfusion Syndrome: Case Reports and Literature Review.

Pseudoamniotic band syndrome (PABS) is a rare iatrogenic complication that arises after invasive procedures in monochorionic twins. We report 3 cases of PABS, 2 after fetoscopic laser photocoagulation and 1 after bipolar cord coagulation. Two cases were detected antenatally by ultrasound; out of the two, one underwent successful fetoscopic release of amniotic band, which is the first report in twin pregnancy to our knowledge.

Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease.

Background: Prenatal sonographic diagnosis of Optiz G/BBB syndrome is difficult because the common clinical features, such as hypertelorism, hypospadias and abnormalities of midline structures, including laryngotracheoesophageal defects, are subtle.

Method: Chromosomal microarray (CMA) analysis using a target enriched Fetal DNA Chip design was performed on the DNA of a fetus with congenital cardiac abnormalities.

Results: Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.