- Email: [email protected]
Diagnosis of trisomy 18 in monozygotic twins by cordocentesis
Diagnosis of trisomy 18 in monozygotic twins by cordocentesis Dinesh M. Shah, MD,. Phillipe Jeanty, MD,b V. G. Dev, PhD,. Janet E. Ulm, MSSW,. and John Phillips, MDc Nashville, Tennessee The incidence of monozygotic twins with trisomy 18 is 1 in 1,000,000 births. We report a case diagnosed prenatally with lymphocyte culture from fetal blood samples obtained by cordocentesis. Fetal growth lag and structural malformations detected by ultrasonography indicated chromosomal abnormality. A saline solution infusion technique ensured that cordocentesis obtained a sample from each twin. (AM J OasrEr GVNECOL 1989;160:214-5)
Key words: Monozygotic twins, trisomy 18, cordocentesis
The monozygotic twin rate is 3.5 to 4 per 1000' and the incidence of trisomy 18 is about 0.3 per 1000 newborn babies! The probability of these events occurring together is around one per million. We report a case of monozygotic twins with trisomy 18 diagnosed by culture of fetal lymphocytes.
Case report A 24-year-old white woman, gravida 2, para 1-0-0-1 with a last menstrual period on June 1, 1986, and an expected date of confinement of March 7, 1987, was seen at 284/7 weeks' gestation with discordant twin pregnancy. Ultrasonographic examination confirmed discordant fetal measurements: biparietal diameter, 69 and 73 mm; femur length, 43 and 50 mm; humerus length, 40 and 47 mm (values for twin A and twin B, respectively). The anatomy survey revealed that twin A had an omphalocele, female phenotype, and oligohydramnios. Twin B had talipes equinovarus, cIitoromegaly, and normal amount of fluid . Both twins had a single umbilical artery. Genetic counseling included discussion of these anomalies and the associated increased risk for chromosomal abnormality. The possibility of detecting chromosomal abnormality in one twin only was discussed as was the unavailability of the option of termination because of gestational age. The patient requested cordocentesis. Fetal blood sampling via cordocentesis was performed at the placental end of each cord. The placentas were anterior, and a cordocentesis was performed for twin A and twin B at different locations on the anterior abdominal wall. A small volume of saline solution was From the DivisIOns of Maternal-Fetal Medicine: Ultrasound,' and Genetics,' Vanderbilt University School of Medicine. R eceived for publicatwn March 8, 1988; revised May 13, 1988; accepted June 13,1988. R eprints not available.
214
Fig. 1. Diagrammatic representation of infusion of saline solution to confirm purity of sample and which twin is being sampled.
injected during each procedure to confirm placement of the needle in the umbilical vein. Flow was noted toward the specific twin being sampled, thereby confirming two distinct samplings (Fig. 1). A total of 3.5 ml of blood was obtained from each fetus . Hematocrits were 38% and 42 % for twins A and B, respectively. Parental and fetal HLA typing confirmed monozygotic twins. Fetal lymphocyte cell cultures revealed trisomy 18 in 20 of 20 cells in each fetus. The patient was delivered vaginally at 29 weeks of gestation. Twin A was a 770 gm female infant with Apgar scores of 1 and 1 at 1 and 5 minutes. On physical exam~nation blepharophimosis micrognathia, a single flexion crease on the fifth fingers bilaterally, rockerbottom feet, omphalocele, and two-vessel cord were noted. Twin B was a 910 gm female infant with Apgar scores identical to those of twin A. Micrognathia, blepharophimosis, a single flexion crease on the fifth fingers, rocker-bottom feet, two-vessel cord, and ditoromegaly
Volume 160 Number I
were noted. Both infants died shortly after birth and postnatal blood sampling confirmed trisomy 18 in each.
Comment In twin gestations, detection of growth retardation of one or both fetuses, especially with structural malformations present, raises the possibility of fetal chromosomal abnormalities. Extensive counseling should accompany attempts at prenatal diagnosis. In this case prenatal diagnosis was helpful both to the patient in clarifying the underlying problem and to the obstetrician in planning management, specifically in avoiding cesarean section, because undiagnosed trisomy 18 pregnancies have a high incidence of cesarean section.
Cordocentesis: Monozygotic trisomy 18 twins
In fetal blood sampling in twin gestations it is imperative that both fetuses are sampled. Infusion of saline solution has proved most helpful to confirm that the needle tip is in the umbilical vessel. An additional advantage of this technique in twin gestations is the ability to follow flow in the cord toward the particular fetus being sampled, thereby confirming separate sampling from each fetus. REFERENCES 1. Bulmer MG. The familial incidence of twinning. Ann Hum Genet 1960;24: 1. 2. Smith DW. Autosomal abnormalities. AM J OBSTET GyNECOL 1964;90:1055-77.
Transvaginal ultrasonography-guided aspiration of gestational sacs for selective abortion in multiple pregnancy Joseph Itskovitz, MD, DSc, Rafi Boldes, MD, Israel Thaler, MD, Moshe Bronstein, MD, Yohanan Erlik, MD, and Joseph M. Brandes, MD Haifa, Israel A method for selective termination of multiple pregnancy by means of transvaginal ultrasonography-guided aspiration of gestational sacs is described. This technique was applied successfully in two women in whom the number of embryos was reduced from four to two at 7 weeks' gestation. (AM J OBSlET GYNECOL 1989;160:215-7.)
Key words: Selective abortion, multiple pregnancy, transvaginal ultrasonography Multiple pregnancy is the major complication associated with ovarian stimulation for induction of ovulation and in vitro fertilization. The presence of more than three embryos early in pregnancy is of serious concern because of the danger of spontaneous abortion and premature delivery. Although a difficult choice to make selective abortion offers a means by which the number of developing embryos can be
From the Department of Obstetrics and Gynecology, RambamMedical Center, and Technion-Israel Institute of Technology, Faculty of Medicine. Presented at the Ninth Congress of the Israel Association of Obstetrics and Gynecology, Tel Aviv, Israel, December 2-4, 1987. Received for publication January 5, 1988; revised April 29, 1988; accepted May 22, 1988. Reprint requests:Joseph Itskovztz, MD, DSc, Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel 31096.
controlled, thus increasing the likelihood of successful pregnancy. We describe a method for early selective termination of multiple pregnancy by means of transvaginal ultrasonography-guided aspiration of gestational sacs.
Patients and methods Reduction of the number of embryos from four to two was carried out at 7 weeks' gestation in two women. Patient 1 conceived after the transfer of five embryos in our in vitro fertilization program and patient 2 conceived after gonadotropin treatment of chronic anovulation. Transvaginal ultrasonography-guided fetal reduction. Povidone-iodine pessaries were inserted into the vagina as a disinfectant the day before and the morning of the procedure. The patient was given an intravenous dose of 100 mg pethidine hydrochloride and 10 mg
215
Key words: Monozygotic twins, trisomy 18, cordocentesis
The monozygotic twin rate is 3.5 to 4 per 1000' and the incidence of trisomy 18 is about 0.3 per 1000 newborn babies! The probability of these events occurring together is around one per million. We report a case of monozygotic twins with trisomy 18 diagnosed by culture of fetal lymphocytes.
Case report A 24-year-old white woman, gravida 2, para 1-0-0-1 with a last menstrual period on June 1, 1986, and an expected date of confinement of March 7, 1987, was seen at 284/7 weeks' gestation with discordant twin pregnancy. Ultrasonographic examination confirmed discordant fetal measurements: biparietal diameter, 69 and 73 mm; femur length, 43 and 50 mm; humerus length, 40 and 47 mm (values for twin A and twin B, respectively). The anatomy survey revealed that twin A had an omphalocele, female phenotype, and oligohydramnios. Twin B had talipes equinovarus, cIitoromegaly, and normal amount of fluid . Both twins had a single umbilical artery. Genetic counseling included discussion of these anomalies and the associated increased risk for chromosomal abnormality. The possibility of detecting chromosomal abnormality in one twin only was discussed as was the unavailability of the option of termination because of gestational age. The patient requested cordocentesis. Fetal blood sampling via cordocentesis was performed at the placental end of each cord. The placentas were anterior, and a cordocentesis was performed for twin A and twin B at different locations on the anterior abdominal wall. A small volume of saline solution was From the DivisIOns of Maternal-Fetal Medicine: Ultrasound,' and Genetics,' Vanderbilt University School of Medicine. R eceived for publicatwn March 8, 1988; revised May 13, 1988; accepted June 13,1988. R eprints not available.
214
Fig. 1. Diagrammatic representation of infusion of saline solution to confirm purity of sample and which twin is being sampled.
injected during each procedure to confirm placement of the needle in the umbilical vein. Flow was noted toward the specific twin being sampled, thereby confirming two distinct samplings (Fig. 1). A total of 3.5 ml of blood was obtained from each fetus . Hematocrits were 38% and 42 % for twins A and B, respectively. Parental and fetal HLA typing confirmed monozygotic twins. Fetal lymphocyte cell cultures revealed trisomy 18 in 20 of 20 cells in each fetus. The patient was delivered vaginally at 29 weeks of gestation. Twin A was a 770 gm female infant with Apgar scores of 1 and 1 at 1 and 5 minutes. On physical exam~nation blepharophimosis micrognathia, a single flexion crease on the fifth fingers bilaterally, rockerbottom feet, omphalocele, and two-vessel cord were noted. Twin B was a 910 gm female infant with Apgar scores identical to those of twin A. Micrognathia, blepharophimosis, a single flexion crease on the fifth fingers, rocker-bottom feet, two-vessel cord, and ditoromegaly
Volume 160 Number I
were noted. Both infants died shortly after birth and postnatal blood sampling confirmed trisomy 18 in each.
Comment In twin gestations, detection of growth retardation of one or both fetuses, especially with structural malformations present, raises the possibility of fetal chromosomal abnormalities. Extensive counseling should accompany attempts at prenatal diagnosis. In this case prenatal diagnosis was helpful both to the patient in clarifying the underlying problem and to the obstetrician in planning management, specifically in avoiding cesarean section, because undiagnosed trisomy 18 pregnancies have a high incidence of cesarean section.
Cordocentesis: Monozygotic trisomy 18 twins
In fetal blood sampling in twin gestations it is imperative that both fetuses are sampled. Infusion of saline solution has proved most helpful to confirm that the needle tip is in the umbilical vessel. An additional advantage of this technique in twin gestations is the ability to follow flow in the cord toward the particular fetus being sampled, thereby confirming separate sampling from each fetus. REFERENCES 1. Bulmer MG. The familial incidence of twinning. Ann Hum Genet 1960;24: 1. 2. Smith DW. Autosomal abnormalities. AM J OBSTET GyNECOL 1964;90:1055-77.
Transvaginal ultrasonography-guided aspiration of gestational sacs for selective abortion in multiple pregnancy Joseph Itskovitz, MD, DSc, Rafi Boldes, MD, Israel Thaler, MD, Moshe Bronstein, MD, Yohanan Erlik, MD, and Joseph M. Brandes, MD Haifa, Israel A method for selective termination of multiple pregnancy by means of transvaginal ultrasonography-guided aspiration of gestational sacs is described. This technique was applied successfully in two women in whom the number of embryos was reduced from four to two at 7 weeks' gestation. (AM J OBSlET GYNECOL 1989;160:215-7.)
Key words: Selective abortion, multiple pregnancy, transvaginal ultrasonography Multiple pregnancy is the major complication associated with ovarian stimulation for induction of ovulation and in vitro fertilization. The presence of more than three embryos early in pregnancy is of serious concern because of the danger of spontaneous abortion and premature delivery. Although a difficult choice to make selective abortion offers a means by which the number of developing embryos can be
From the Department of Obstetrics and Gynecology, RambamMedical Center, and Technion-Israel Institute of Technology, Faculty of Medicine. Presented at the Ninth Congress of the Israel Association of Obstetrics and Gynecology, Tel Aviv, Israel, December 2-4, 1987. Received for publication January 5, 1988; revised April 29, 1988; accepted May 22, 1988. Reprint requests:Joseph Itskovztz, MD, DSc, Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel 31096.
controlled, thus increasing the likelihood of successful pregnancy. We describe a method for early selective termination of multiple pregnancy by means of transvaginal ultrasonography-guided aspiration of gestational sacs.
Patients and methods Reduction of the number of embryos from four to two was carried out at 7 weeks' gestation in two women. Patient 1 conceived after the transfer of five embryos in our in vitro fertilization program and patient 2 conceived after gonadotropin treatment of chronic anovulation. Transvaginal ultrasonography-guided fetal reduction. Povidone-iodine pessaries were inserted into the vagina as a disinfectant the day before and the morning of the procedure. The patient was given an intravenous dose of 100 mg pethidine hydrochloride and 10 mg
215