We report the use of fluorescent in situ hybridization (FISH) with a DNA library of chromosome 1-specific probes to confirm the karyotype, 46,XY,15+der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG-banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. Cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with de novo chromosomal rearrangements where paternal chromosomes are unavailable for study.

Congenital hydrothorax has been successfully managed in utero by two different treatment modalities: thoracentesis and pleuroamniotic shunting. Unfortunately, there is a paucity of data as to which method is better for the management of this problem. This case report supports the use of thoracentesis as the initial procedure for primary fetal hydrothorax. We report a pregnancy complicated by primary fetal hydrothorax with non-immune hydrops that completely resolved after two thoracenteses in the early third trimester. Complete resolution was maintained throughout pregnancy without the need for further antenatal or neonatal intervention, i.e. further thoracentesis, pleuroamniotic shunt placement, intubation, or chest and/or abdominal tube placement. The child was delivered at 42 weeks and is doing well without problems at 1 year of age. We believe that intrauterine thoracentesis should be the initial procedure of choice for the treatment of primary fetal hydrothorax with mediastinal shift, and pleuroamniotic shunting should be reserved for cases that require repetitive thoracenteses.

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FHR variability by itself cannot serve as the only indicator of fetal wellbeing. The presence of low variability should alert the physician; however, good FHR variability should not be interpreted as reassuring.

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