Prenatal diagnosis of fetal hypothyroidism after maternal radioactive iodine exposure during pregnancy.

A 33-year-old woman with a history of surgically treated papillary thyroid carcinoma was inadvertently given radioactive iodine when she was 16 weeks pregnant. Sonographic examination revealed fetal thyroid hypoplasia, and cordocentesis confirmed fetal hypothyroidism at 22 weeks. The pregnancy was terminated at 24 weeks. We report the first case of fetal thyroid hypoplasia diagnosed by ultrasound and cordocentesis.

Correlation between prenatal ultrasound and fetal autopsy findings in fetal anomalies terminated in the second trimester.

OBJECTIVE: The aim of the study was to compare the consistency of major/minor fetal anomalies detected by second trimester prenatal ultrasound examination with the findings in fetal autopsies following the termination of pregnancy (TOP) in the second trimester. DESIGN: In a 4-year long prospective study, 107 second-trimester TOP was performed due to fetal malformation diagnosed by second trimester-ultrasound examination at a tertiary referral center. Ultrasound findings were compared with fetal autopsy findings. RESULT: Of the 107 cases with major fetal anomalies diagnosed by prenatal ultrasound, 49% had central nervous system anomalies, 23% had kidney and urinary tract anomalies, 11% had congenital heart disease. All of these major anomalies leading to TOP were confirmed by fetal autopsy (100% success rate in major anomalies). Overall success rate in prenatal ultrasound for major and minor anomalies was 77%. The percentage of additional minor anomalies detected in fetal autopsies was 20%. Three percent of the minor anomalies detected by prenatal ultrasonography could not be confirmed during autopsy. Chromosomal anomalies were detected in 9 (16%) out of 57 cases. CONCLUSION: Evaluation of fetal autopsies following TOP enables diagnosis of pathologies undetected by prenatal ultrasound alone, leading to better preconceptional counseling for subsequent pregnancies.

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3-->qter) and partial monosomy 17p (p13.3-->pter).

OBJECTIVE: Clinical features of the distal 10q trisomy syndrome consist of mental retardation, facial dysmorphism and renal and cardiac anomalies. The presence of a sacrococcygeal teratoma (SCT) in a fetus with distal 10q trisomy has not been reported yet. METHODS: A 33-year-old, G5, P2 woman with a singleton pregnancy was referred to our clinic at 24 weeks of gestation for further evaluation of a fetal sacral exophytic mass. Detailed fetal sonographic examination together with chromosomal analysis by amniocentesis was performed. RESULTS: The scan revealed a large SCT together with a persistent right umbilical vein, cardiomegaly, bilateral mild hydronephrosis and intrauterine growth retardation. The fetal karyotype showed distal 10q trisomy (10q24.3-->qter) distal monosomy 17 (p13-->pter). The fetus died after a preterm delivery at 28 weeks of gestation. Postnatal examination confirmed the prenatal findings and added the typical facial features of this syndrome, which consisted of prominent forehead, small nose with depressed nasal bridge, micrognathia and bow-shaped mouth. CONCLUSION: This case provides further evidence of a possible association between chromosomal aberrations in SCTs.