Sheau-Wen Jan

ULTRASOUND‐GUIDED FLUID ASPIRATION AND PRENATAL DIAGNOSIS OF DUPLICATED HYDROMETROCOLPOS WITH UTERUS DIDELPHYS AND SEPTATE VAGINA

We report on a case of duplicated hydrometrocolpos with uterus didelphys, a septate vagina, lower vaginal atresia, a persistent urogenital sinus, left ear agenesis, a single umbilical artery, and an imperforate anus, but without the associated features of McKusick–Kaufman syndrome such as polydactyly and congenital heart defects. Ultrasound‐guided fluid aspiration of the fetal intrapelvic cystic mass helped to decompress the distended genital organs, decrease the severity of the urinary tract obstruction, delineate the ultrasonographic image of duplicated hydrometrocolpos to differentiate it from other intrapelvic cystic masses, and obtain fluid for cytological analysis.

In utero urinary bladder perforation, urinary ascites, and bilateral contained urinomas secondary to posterior urethral valves: clinical and imaging findings

Abstract We report on a rare in utero appearance of urinary bladder perforation, urinary ascites, and bilateral contained urinomas secondary to posterior urethral valves. The findings on prenatal sonography, postnatal voiding cystourethrography, and magnetic resonance imaging are described.

Prenatal diagnosis of omphalocele associated with umbilical cord cyst

Background. To study the cytogenetics, ultrasound findings, biochemical screening, perinatal outcome, and associated abnormalities in cases of omphaloceles associated with umbilical cord cysts.

Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis

Background. Pregnancies complicated by fetal cystic hygroma in the second and third trimesters are often associated with hydrops fetalis, oligohydramnios or intrauterine fetal death which may make genetic assessment more difficult. We investigated the roles of amniocentesis. postmortem chorionic villus sampling and cystic hygroma paracentesis in cytogenetic evaluation of cystic hygroma under such circumstances.

Skeletal deformities of acardius anceps: the gross and imaging features

Abstract A morphology based imaging review is presented of the characteristic skeletal deformities associated with acardius anceps in three acardiac twins. These fetuses demonstrated poorly developed skulls, limb reduction defects, and phocomelia of the upper limbs, as well as narrow thoracic cages with or without the complete development of ribs, clavicles, scapulae, and cervical, thoracic, or lumbar vertebrae. However, their lower limbs and pelvic girdles were almost normal. The authors conclude that skeletal development is likely to be jeopardized in the area adjacent to the heart and in the cephalic portion of the body in fetuses with acardius anceps, and suggest vascular deficiency and hypoperfusion as pathogenetic mechanisms in this type of skeletal deformity.

PRENATAL DIAGNOSIS OF PARTIAL MONOSOMY 3p AND PARTIAL TRISOMY 2p IN A FETUS ASSOCIATED WITH SHORTENING OF THE LONG BONES AND A SINGLE UMBILICAL ARTERY

The prenatal and postnatal findings of a fetus with partial deletion of 3p25→pter and duplication of 2p25.3→pter are described. The proband postnatally displayed mental and growth retardation, psychomotor delay, microcephaly, ptosis, micrognathia, a narrow palate, and cryptorchidism. All of these anomalies were consistent with those described in 3p‐ and partial trisomy 2p syndromes, and also frequently seen in patients with other chromosomal disorders. However, the prenatal sonograms revealed unusual shortening of the long bones, a single umbilical artery, and normal development of the skull. Our case suggests that skeletal growth retardation of the long bones may occur earlier than that of the skull in fetuses associated with chromosomal aberrations such as del(3p)/dup(2p). Shortening of the long bones and a single umbilical artery together with other abnormalities detected by prenatal ultrasound thus warrant a fetal cytogenetic study.

Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly.

Chromosome aberrations, mendelian mutations and exogenous agents can cause holoprosencephaly. Therefore, etiologic evaluation of holoprosencephaly is necessary for obstetricians and genetic counselors, once a prenatal diagnosis of holoprosencephaly has been made. We present four pregnancies in three women in which routine sonographic examinations led to the prenatal diagnosis of holoprosencephaly. Prenatal cytogenetic analysis and fluorescence in situ hybridization demonstrated a 46, XY, del(7)(pter→q32:) and a 46, XY, der(2)t(2;3)(q37;p21)pat karyotype respectively in two fetuses with cyclopia, and a 46, XX, der(2)t(2;3)(q37;p21)pat and a 46, XX, der(7)t(3;7)(p23;q36) karyotype respectively in two fetuses with premaxillary agenesis. In conclusion, terminal deletion 7q and partial trisomy 3p in holoprosencephalic fetuses indicates that genes contributing to craniofacial development reside in these critical regions. Proper prognostic evaluation in further pregnancies requires expertise in cytogenetics and genetic counseling.

Sirenomelia with an uncommon osseous fusion associated with a neural tube defect

Abstract A sireniform infant presented with an uncommon osseous fusion of the lower limbs characterised by a fused femur, a partially fused tibia and sympus dipus with rudimentary digits and metatarsals. Associated abnormalities included sacral agenesis, a deformed pelvis, anorectal atresia, renal agenesis, cystic renal dysplasia, agenesis of the uterus and urinary bladder, ambiguous external genitalia, a single umbilical artery, a lumbosacral neural tube defect, and ventriculomegaly secondary to a Chiari II malformation. The pathogenesis of concurrent sirenomelia and neural tube defect is discussed.

Progressive fetal axillary cystic lymphangioma with coexistent naevus flammeus

We report the rare occurrence of a progressive fetal axillary cystic lymphangioma coexistent with an overlying naevus flammeus. The fetus at 22 weeks gestation was found to have a 37 × 35 mm left axillary multiloculated mass without colour‐flow imaging. Amniocentesis showed a normal 46.XX karyotype. Multiple fine‐needle aspirations of the mass in the second and third trimesters obtained blood‐stained chocolate‐coloured fluid containing numerous erythrocytes and lymphocytes but proved ineffective in lessening the progressive growth of the mass. The mother underwent caesarean delivery and a healthy neonate was born with a 141 × 81 mm left axillary cystic lymphangioma and a 50 × 35 mm coexistent naevus flammeus. The neonate was well after simple excision of the lesions. Although cystic lymphangiomas arising in the axilla enlarge progressively during fetal life. our case suggests a good prognosis and except for genetic evaluation. no prenatal intervention is required.

Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus

We present the first report of prenatally diagnosed Dandy‐Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy‐Walker malformation can be an associated congenital malformation of supernumerary der(22)t(11;22) syndrome and emphasize the importance of chromosomal analysis and genetic counselling in the obstetric management of prenatally diagnosed Dandy‐Walker malformation.