PRENATAL DIAGNOSIS, VOL.
12,853-859 ( 1992)
LETTERS TO THE EDITOR Prenataldiagnosisof terminal deletion 1 (q42) Rotmensch et al. (1991) have reported the prenatal diagnosis of a fetus affected by a de novo deletion distal to lq41. Chromosome studies were carried out following secondtrimester ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness. Following termination at 21 weeks, only some components of the pattern of craniofacial features usually found in patients with distal deletion of chromosome Iq (Johnson et a/., 1985; Meinecke and Vogtel, 1987) were observed in the affected fetus. This has suggested that subtle manifestations of distal del Iq might not be noticeable at mid-trimester gestation. On the contrary, prenatal diagnosis of a del 1 (q42) fetus has suggested to us that the most consistent stigmata of this syndrome are present as early as in the second trimester of gestation. A 22-year-old woman was referred to us at 19 weeks’ gestation for a targeted ultrasound scan with a diagnosis of IUGR. One previous pregnancy resulted in a malformed stillbirth. Our ultrasonographic examination in this pregnancy was consistent with a gestational age of 16 weeks. The mother decided to have an amniocentesis for fetal karyotyping. Chromosome preparations from primary cultures of amniocytes showed a 4 6 , X Y , del ( I ) (q42) karyotype. Chromosome analysis of the parents disclosed a balanced translocation t (1;17) (q42;p13) in themother. The pregnancy was terminated at 21 weeks. At autopsy the following characteristic features were noted: microcephaly, brachycephaly, a short and broad nose, pseudohypertelorism, micrognathia, low-set ears, a short and slightly webbed neck, hypospadias, hypoplastic first metacarpals, duplicated distal thumb phalanges, a ventricular septa1 defect, and a bicuspid pulmonary valve. Although distal del Iq (q42 or 43-rqter) patients are considered to have a phenotypically definable and recognizable syndrome, the facial appearance and gestalt
0 1992 by John Wiley & Sons, Ltd.
usually d o not suggest the correct diagnosis unless the chromosome results are available. In retrospect, we conclude that the facial features of second trimester fetuses with terminal deletion of Iq are similar to those outlined in live-born patients with the same imbalance. BRUNODALLAPICCOLA*, GIOVANNA F E R R A N T l t A N D ANTONIO PACHit
*Chair of Human Genetics IInd University of Rome, and CSS Hospital. IRCCS, S. Giovanni Rotondo. Italy TPrenataI Diagnosis Center Institute of Obstetrics and Cynaecology ‘La Sapienza ’ University, Rome, Italy REFERENCES Halal, F., Vekemans, M., Kaplan, P., Zeesman, S. (1990). Distal deletion of chromosome Iq in an adult, Am. J . Med. Genet., 35,379-382. Johnson, V.P., Heck, L.J., Carter, G.A., Flom, J.O. (1985). Deletion of the distal long arm of chromosome 1: a definable syndrome, Am. J . Med. Genet., 2,685-694. Meinecke, P., Vogtel, D. (1987). A specific syndrome due to the deletion of the distal long arm of chromosome I , Am. J . Med. Genet., 28, 371-316. Rotmensch, S., Liberati, M., Luo, J.S., TaHini, G., Mahoney, M.J., Hobbins, J.C. (1991). Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41), Prenor. Diagn., 11, 867-813.
Elevated maternal serum human chorionic gonadotropin associated with a chromosomal deletion Maternal serum human chorionic gonadotropin (MShCG) has recently been introduced as a screening procedure for the detection of fetal trisomy 21, where the MShCG level is frequently, but not always, elevated. We read with interest the two letters to the editor reported in yourjournal (Barkai et al., 1991; Ben-Neriah et al., 1992) correlating increased MShCG also with sex chromosome abnormalities. In this regard,
12,853-859 ( 1992)
LETTERS TO THE EDITOR Prenataldiagnosisof terminal deletion 1 (q42) Rotmensch et al. (1991) have reported the prenatal diagnosis of a fetus affected by a de novo deletion distal to lq41. Chromosome studies were carried out following secondtrimester ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness. Following termination at 21 weeks, only some components of the pattern of craniofacial features usually found in patients with distal deletion of chromosome Iq (Johnson et a/., 1985; Meinecke and Vogtel, 1987) were observed in the affected fetus. This has suggested that subtle manifestations of distal del Iq might not be noticeable at mid-trimester gestation. On the contrary, prenatal diagnosis of a del 1 (q42) fetus has suggested to us that the most consistent stigmata of this syndrome are present as early as in the second trimester of gestation. A 22-year-old woman was referred to us at 19 weeks’ gestation for a targeted ultrasound scan with a diagnosis of IUGR. One previous pregnancy resulted in a malformed stillbirth. Our ultrasonographic examination in this pregnancy was consistent with a gestational age of 16 weeks. The mother decided to have an amniocentesis for fetal karyotyping. Chromosome preparations from primary cultures of amniocytes showed a 4 6 , X Y , del ( I ) (q42) karyotype. Chromosome analysis of the parents disclosed a balanced translocation t (1;17) (q42;p13) in themother. The pregnancy was terminated at 21 weeks. At autopsy the following characteristic features were noted: microcephaly, brachycephaly, a short and broad nose, pseudohypertelorism, micrognathia, low-set ears, a short and slightly webbed neck, hypospadias, hypoplastic first metacarpals, duplicated distal thumb phalanges, a ventricular septa1 defect, and a bicuspid pulmonary valve. Although distal del Iq (q42 or 43-rqter) patients are considered to have a phenotypically definable and recognizable syndrome, the facial appearance and gestalt
0 1992 by John Wiley & Sons, Ltd.
usually d o not suggest the correct diagnosis unless the chromosome results are available. In retrospect, we conclude that the facial features of second trimester fetuses with terminal deletion of Iq are similar to those outlined in live-born patients with the same imbalance. BRUNODALLAPICCOLA*, GIOVANNA F E R R A N T l t A N D ANTONIO PACHit
*Chair of Human Genetics IInd University of Rome, and CSS Hospital. IRCCS, S. Giovanni Rotondo. Italy TPrenataI Diagnosis Center Institute of Obstetrics and Cynaecology ‘La Sapienza ’ University, Rome, Italy REFERENCES Halal, F., Vekemans, M., Kaplan, P., Zeesman, S. (1990). Distal deletion of chromosome Iq in an adult, Am. J . Med. Genet., 35,379-382. Johnson, V.P., Heck, L.J., Carter, G.A., Flom, J.O. (1985). Deletion of the distal long arm of chromosome 1: a definable syndrome, Am. J . Med. Genet., 2,685-694. Meinecke, P., Vogtel, D. (1987). A specific syndrome due to the deletion of the distal long arm of chromosome I , Am. J . Med. Genet., 28, 371-316. Rotmensch, S., Liberati, M., Luo, J.S., TaHini, G., Mahoney, M.J., Hobbins, J.C. (1991). Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41), Prenor. Diagn., 11, 867-813.
Elevated maternal serum human chorionic gonadotropin associated with a chromosomal deletion Maternal serum human chorionic gonadotropin (MShCG) has recently been introduced as a screening procedure for the detection of fetal trisomy 21, where the MShCG level is frequently, but not always, elevated. We read with interest the two letters to the editor reported in yourjournal (Barkai et al., 1991; Ben-Neriah et al., 1992) correlating increased MShCG also with sex chromosome abnormalities. In this regard,
