Sara C. Finley

Utilization of prenatal genetic diagnosis in women 35 years of age and older in the United States, 1977 to 1978

As a measure of access to and acceptability of prenatal chromosomal diagnosis among older gravidas, we determined the ratio of use of prenatal diagnosis among women 35 years of age and older in Alabama, California, Manhattan, and Nebraska for the period 1977-1978. Utilization ratios were higher in 1978. Overall, utilization ratios were between 6% and 28%, well below the adjusted rates of 40% to 50% found in certain United States and British localities. Urban women tended to have higher utilization ratios than had rural women, and white women had higher ratios than had black women. Ratios were extremely low for black and rural residents. The oldest women (those greater than or equal to 40 years), who were at fivefold greater risk than women 35 to 36 years of age, had less than a onefold increase in utilization over the latter groups. The vast majority of older gravidas initiated prenatal care sufficiently early in their pregnancies to receive prenatal diagnosis. Current program strategies need to ensure access to prenatal diagnosis, especially for women greater than or equal to 40 years of age, women who are black, and women who live in rural areas.

CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

Kabuki (Niikawa-Kuroki) syndrome (KS) comprises characteristic facial changes, developmental delay, skeletal anomalies, mental retardation, and abnormal dermatoglyphics. We report on a 5-year-old Caucasian boy with KS who required surgery for a giant left temporoparietal subarachnoid cyst at age 5 1/2 years. Review of the 143 published cases shows that while malformations may be found in the endocrine, cardiac, genitourinary and skeletal systems, this is the first case of Kabuki syndrome with a major central nervous system malformation.

Fetal loss and familial chromosome I translocations

A structural abnormality of chromosome No. 1 was found in two families who had a history of repeated abortions. The propositus in Family H was a low birth weight, malformed infant who had a partial trisomy of 1q. His mother and a sibling were balanced carriers of a t(1;4) (q25;q35). In family B, the 29‐year‐old phenotypically normal propositus and his mother were found to be balanced carriers of a t(1;12) (p13;q24). It is suggested that the fetal wastage in both families was related to the abnormal karyotypes of the parents. These two families also provide an opportunity to further understand the effect of an abnormality of chromosome number 1 on phenotype.

The relationship between maternal serum and amniotic fluid α-fetoprotein in women undergoing early amniocentesis

alpha-Fetoprotein levels were measured on 148 paired samples from the maternal serum and amniotic fluid in women greater than or equal to age 35, who were undergoing early amniocentesis (12 to 14 weeks) for chromosomal analysis. These 148 women were white, weighed less than 200 pounds, had no serious medical problems, and did not have a fetal abnormality detected by ultrasonography or karyotype analysis. There was a significant rise in the maternal serum alpha-fetoprotein concentration from 12 to 14 weeks gestation. Amniotic fluid alpha-fetoprotein peaked at 13 weeks and then significantly declined by 14 weeks gestation. Similar to reports from normal pregnancies at 16 and 17 weeks, we found no correlation between the maternal serum and amniotic fluid alpha-fetoprotein levels between 12 and 14 weeks. Amniotic fluid alpha-fetoprotein levels cannot be predicted by levels in the maternal serum in pregnancies between 12 and 14 weeks gestation.

Chromosome 18q Paracentric Inversion in a Family With Mental Retardation and Hearing Loss

We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv(18)(q21.1q23). The child had findings in common with those seen in 18q- syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay. The mother and several maternal relatives had mild mental retardation and hearing loss. Magnetic resonance imaging of the childs brain showed abnormal myelination. Molecular studies including PCR-based markers for the MBP locus and fluorescent in situ hybridization with a P1 genomic clone on mother and child demonstrated only one copy of the MBP locus (18q23) with the deletion extending beyond the MBP locus. Therefore, the deletion in the MBP region may account for the abnormal myelination seen in the patient. The other clinical findings, including mental retardation and hearing loss in this family, may reflect disruption of distal or proximal genes within the deleted MBP region or at the more proximal breakpoint 18q21.1, and may represent a contiguous gene syndrome. Further study of this family may help define those genes functioning in the MBP region that contribute to the phenotype of 18q- syndrome.

Congenital tuberculosis: Report of a case

Summary The total number of cases of congenital tuberculosis reported in the American and foreign literature has been determined. Another case which has thus far survived has been presented.

Rheumatoid arthritis in the 46, XX, 18p- syndrome.

Some of the evidence suggesting a relationship between autoimmunity and chromosomal aberrations is reviewed and an example which may support such a relationship is presented. The propositus was a 5‐year‐old Caucasian female who had juvenile rheumatoid arthritis and a deletion of the short arm of a chromosome 18 (46, XX, 18p‐). Her serum IKA was normal, although IgA deficiency has been reported in a significant number of patients having an 18 deletion syndrome as well as in patients having rheumatoid arthritis. This patient focuses attention on the presently unresolved problem of the association between autoimmune disease and chromosomal aberrations.

Prison survey for the XYY karyotype in tall inmates

Cytogenetic analysis of tall Alabama prisoners showed two of 100 Caucasian and none of 108 Negroes to have the XYY karyotype. Convictions were numerous for each XYY prisoner, with robbery, burglary, and automobile theft being the most common offenses. Psychological evaluation indicated IQs of 105 and 108.

Amniotic fluid α-fetorotein levels and pregnancy outcome

Elevated and low levels of maternal serum α-fetoprotein in the midtrimester of pregnancy have been linked with, adverse events in later gestation, such as fetal and neonatal deaths, chromosomal abnormalities, and low birth weight infants. It is not known if this same association with poor pregnancy outcome is also true of amniotic fluid α-fetoprotein. In this study, α-fetoprotein was obtained from the fluid of 1060 women undergoing genetic amniocentesis for advanced maternal age. Poor pregnancy outcome was defined as (1) a fetal or neonatal death, (2) preterm delivery; or (3) low birth weight infants. Amniotic fluid α-fetoprotein was compared to each type of adverse outcome. No significant association with a poor pregnancy outcome in later gestation was noted. Although serum α-fetoprotein in the midtrimester of pregnancy may relate to certain poor outcomes in later gestation, midtrimester amniotic fluid α-fetoprotein offers no predictive value for the course of events in later gestation.

Does the Multiple Marker Screening Test Identify Chromosomal Abnormalities in the First Trimester

The purpose of this study was to investigate whether the multiple marker screening test (MMST) might be used as a screening test to detect chromosomal abnormalities during the first trimester. We performed MMSTs on stored serum samples from women who had undergone an early ammiocentesis during 1988–1993. Medians at each gestational age 11–136/7 weeks were calculated. A positive screening test was a Down Syndrome (DS) risk of ± 1:190 in the midtrimester. The results of the serum tests were compared to the fetal karyotype results and pregnancy outcome data. Three hundred eighteen samples were assayed. Two hundred seventy-five women (86%) were ⩽ age 35 at delivery. There were 76 (24%) positive screening tests reflecting the large number of women ⩽ age 35. Eight fetuses had abnormal karyotypes. The MMST identified 4/8 chromosome abnormalities, 2 of 2 (100%) cases of Down syndrome, 1 of 1 case of trisomy 13, and 1 of 3 (33%) sex chromosomal abnormalities. The detection/amniocentesis rate was 1/38 for DS and 1/...