A Vertical Transmission, de novo, and Expansion of Y chromosome Microdeletion in Male Fetuses Pregnant after Intracytoplasmic Sperm Injection / 대한불임학회지

OBJECTIVES: Despite severe oligospermia, males with Y chromosome microdeletion can achieve conception through ICSI (Intracytoplasmic Sperm Injection). However, ICSI may not only result in the transmission of microdeletions but also the expansion of deletion to the offspring. The purpose of this study was to screen vertical transmission, expansion of microdeletions and de novo deletion in male fetuses conceived by ICSI. MATERIALS AND METHODS: A total of 32 ICSI treated patients with their 33 (a case of twin) male fetuses conceived by ICSI were used to make this study group. Sequence-tagged sites (STSs)-based PCR analyses were performed on genomic DNA isolated from peripheral blood of fathers and from the amniocytes of male fetuses. Ten primer pairs namely, sY134, sY138, MK5, sY152, sY147, sY254, sY255, SPGY1, sY269 and sY158 were used. The samples with deletions were verified at least three times. RESULTS: We detected a frequency of 12.5% (4 of the 32 patients) of microdeletions in ICSI patients. In 4 patients with detected deletions, two patients have proven deletions on single STS marker and their male fetuses have the identical deletion in this region. Another two patients have two and three deletions, but their male fetuses have more than 3 deletions which include deletions to their father's. Meanwhile, seven male fetuses, whose fathers were analyzed to have all 10 STS markers present, have deletions present in at least one or more of the markers. CONCLUSIONS: Although the majority of deletions on the Y chromosome are believed to arise de novo, in some cases a deletion has been transmitted from the fertile father to the infertile patient. In other cases the deletion was transmitted through ICSI treatment, it is likely that one sperm cell is injected through the oocyte's cytoplasm and fertilization can be obtained from spermatozoa. Our tests for deletion were determined by PCR and our results show that the ICSI treatment may lead to vertical transmission, expansion and de novo Y chromosome microdeletions in male fetuses. Because the sample group was relatively small, one should be cautious in analyzing these data. However, it is important to counsel infertile couples contemplating ICSI if the male carries Y chromosomal microdeletions.

A Case of Anencephaly Associated with Twin Pregnancy Conceived by In Vitro Fertilization and Embryo Transfer / 대한산부인과학회잡지

Twin pregnancies are increasing these days due to recent development of the technology in treating infertility and twin pregnancies tend to cause more congenital anomaly than singleton pregnancies do. Although anencephaly is not uncommon, occurring in about one in every 1,000 births, anencephaly developed in a twin pregnancy is very rare. We experienced a twin pregnancy which consisted of an anencephalic fetus and a normal one. This pregnancy was conceived by IVF and ET. This pregnancy was continued without having special problems and was delivered at 36 weeks of gestation by cesarean section due to SROM (spontaneous rupture of membrane). The anencephalic fetus weighed 1,430 gm and was already dead in the uterus. The other weighed 2,660 gm and showed no external anomaly. Its Apgar score was 8 in 1 minute and 9 in 5 minute. The pregnancy resulted in a cesarean section delivery of one dead anencephalic fetus and one normal healthy fetus. We report with a brief review of literature a case of a twin pregnancy, conceived by IVF and ET, in which anencephaly was associated with a normal fetus.

A Case of Type II Congenital Cystic Adenomatoid Malformation of the Lung in a Transdiaphragmatic Extralobar Pulmonary Sequestration / 대한산부인과학회잡지

With the current widespread use of obstetric ultrasonography, increasing cases of congenital malformations have been demonstrated antenatally. Both pulmonary sequestration and congenital cystic adenomatoid malformation of the lung (CCAM) are two infrequent congenital pulmonary diseases. The combination of these entities is rare. In the review of literature, this abnormality is so rare that only 80 cases were reported worldwide. To our knowledge, there has been no report that this combined malformation is located transdiaphragmatically. We report the first case of transdiaphragmatic extralobar pulmonary sequestration (ELS) associated with CCAM which was diagnosed by prenatal ultrasonography at 24 weeks gestational age.

A Case of Limb-Body Wall Complex Diagnosed by Prenatal Ultrasonography / 대한산부인과학회잡지

Limb-body wall complex, also known as the short umbilical cord syndrome or the body stalk anomaly, is a poorly defined, sporadic group of congenital anomaly characterized by a collection of protean fetal malformation, deformation and disruption. Accurate diagnosis is often difficult because of its variable presentation pattern and the absence of exactly same case. Ultrasonographic detection of abdominoschisis, scoliosis, abnormalities of the lower extremities, a single umbilical artery and a short umbilical cord is important for the prenatal diagnosis. This complex should be distinguished from other body wall defects including omphalocele and gastroschisis since the prognosis for limb-body wall complex is uniformly poor. We experienced a case of limb-body wall complex in a fetus of intrauterine pregnancy at 15 weeks who was terminated because of ultrasonographic demonstration of a large abdominal defect with eventration of abdominal organs, short umbilical cord and kyphoscoliosis. Thus, we report a case with brief review of the literatures.

A Case of Patau Syndrome Diagnosed in Antenatal Care / 대한산부인과학회잡지

Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It is characterized by holoprosencephaly, cleft lip, cleft palate, cyclopia, polydactyly, congenital heart disease, and intrauterine growth retardation. Because of severity of congenital defects, extremely short survival time is expected. The rare survivors have profound mental retardation and seizures. So life sustaining procedures are generally not attempted. We report a case of Patau syndrome, which was diagnosed by prenatal ultrasonography at 25 weeks gestational age.