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1.
Am J Med Genet ; 26(4): 991-4, 1987 Apr.
Article in English | MEDLINE | ID: mdl-2438934

ABSTRACT

We report on 2 cases of fetal congenital diaphragmatic defects with normal chromosomes among 105 patients referred for evaluation for low maternal serum alpha-fetoprotein (MSAFP) levels. The mechanism for this striking association is not clear. The association of low MSAFP levels and congenital diaphragmatic defects may have importance for MSAFP screening programs.


Subject(s)
Diaphragm/abnormalities , alpha-Fetoproteins/blood , Adult , Female , Humans , Pregnancy
2.
Am Fam Physician ; 34(4): 83-9, 1986 Oct.
Article in English | MEDLINE | ID: mdl-3532741

ABSTRACT

The biophysical profile assesses fetal well-being by evaluating five variables: fetal heart rate reactivity, breathing movements, gross body movements, muscular tone and qualitative amniotic fluid volume. These are estimated through nonstress test monitoring and fetal ultrasound. The biophysical profile reduces the high false-positive rate that is characteristic of single-parameter testing methods, and it can be helpful in monitoring high-risk pregnancies.


Subject(s)
Fetal Monitoring/methods , Amniotic Fluid/physiology , Biophysical Phenomena , Biophysics , Female , Fetal Movement , Fetus/physiology , Heart Rate, Fetal , Humans , Pregnancy , Respiration , Ultrasonography
4.
Fertil Steril ; 42(5): 772-8, 1984 Nov.
Article in English | MEDLINE | ID: mdl-6436071

ABSTRACT

Because most men with prenatal exposure to diethylstilbestrol (DES) are still young and have not attempted to father children, its reproductive effects are uncertain. In a previous pilot study, we had noted an association between in utero DES exposure and reduced penetration of zona-free hamster eggs by sperm. To test these findings in a controlled manner, we performed physical examinations on 51 men with in utero DES exposure and 29 unexposed men and evaluated the penetration of zona-free hamster eggs by their sperm. Epididymal cysts or abnormalities of the prostate, testicle, or penile meatus were present in 37% of men with in utero DES exposure, versus 4% of nonexposed men (P less than 0.001). The mean proportions of penetrated eggs were 25% after in utero DES exposure and 29% in the nonexposed group (P greater than 0.57). The genital abnormalities related to DES exposure were not related to reduced egg penetration. We conclude that in utero exposure to DES is not related to a significant change in the penetration of zona-free hamster eggs by sperm.


Subject(s)
Abnormalities, Drug-Induced/etiology , Diethylstilbestrol/adverse effects , Genitalia, Male/abnormalities , Infertility, Male/chemically induced , Prenatal Exposure Delayed Effects , Adult , Female , Follicle Stimulating Hormone/blood , Humans , Luteinizing Hormone/blood , Male , Physical Examination , Pregnancy , Radioimmunoassay , Semen/analysis , Sperm-Ovum Interactions , Testosterone/blood , Time Factors
6.
Am J Med Genet ; 16(4): 527-34, 1983 Dec.
Article in English | MEDLINE | ID: mdl-6419606

ABSTRACT

We report on the incidence of Rh isoimmunization after genetic amniocentesis at our institution. In 115 Rh negative women who underwent amniocentesis and subsequently delivered Rh positive infants, there were 4 (3.4%) sensitizations before birth. This was significantly greater than the 1.5% rate of gestational sensitization found in pooled populations of women who did not undergo amniocentesis. We also noted a significant increase in the number of sensitizations that occurred before 28 weeks. The results were consistent with those of previous studies of this issue, and are discussed in relation to current policies for managing Rh negative women who have second trimester amniocentesis.


Subject(s)
Amniocentesis/adverse effects , Erythroblastosis, Fetal/immunology , Immunization , Maternal-Fetal Exchange , Rh-Hr Blood-Group System/immunology , Adult , Female , Humans , Infant, Newborn , Pregnancy , Pregnancy Trimester, Third , Risk
7.
Am J Med Genet ; 16(3): 297-300, 1983 Nov.
Article in English | MEDLINE | ID: mdl-6580818
8.
Fertil Steril ; 40(5): 655-60, 1983 Nov.
Article in English | MEDLINE | ID: mdl-6628710

ABSTRACT

Human spermatozoa were separated according to their motility by centrifuging semen on discontinuous Percoll gradients. Fractions of the gradients were examined for sperm motility, velocity, viability, morphology, bacteria, and sperm function using the hamster ova sperm penetration assay. The percentage of motile sperm increased from 40% to 60% motile sperm in 60% Percoll to 90% to 100% Percoll. Sperm velocity increased proportionately. Staining showed that greater than 90% of sperm in the 100% Percoll were alive and had normal morphology, and that only sperm cells were found in Percoll concentrations greater than 80%. Sperm isolated in the 80% to 100% Percoll fractions penetrated hamster ova much more frequently than sperm found in the 60% to 70% fractions or than sperm that had not been separated on a Percoll gradient.


Subject(s)
Cell Separation , Sperm Capacitation , Sperm Motility , Spermatozoa/physiology , Cell Survival , Centrifugation, Density Gradient , Fertility , Humans , Male , Semen/analysis
9.
Am J Med Genet ; 16(1): 1-5, 1983 Sep.
Article in English | MEDLINE | ID: mdl-6638060
10.
11.
Am J Med Genet ; 15(3): 379-81, 1983 Jul.
Article in English | MEDLINE | ID: mdl-6349362
12.
Am J Med Genet ; 14(4): 603-5, 1983 Apr.
Article in English | MEDLINE | ID: mdl-6846394
14.
15.
Am J Med Genet ; 13(4): 357-8, 1982 Dec.
Article in English | MEDLINE | ID: mdl-7158635
16.
Am J Med Genet ; 13(3): 355, 1982 Nov.
Article in English | MEDLINE | ID: mdl-6817639
17.
Am J Med Genet ; 13(3): 257-62, 1982 Nov.
Article in English | MEDLINE | ID: mdl-7180871

ABSTRACT

The activities of pyruvate-kinase (PK) and creatine-kinase (CK) were measured in 50 normal pregnant women in both serum and amniotic fluid. Serum PK activity was found to be significantly higher in pregnant than in nonpregnant women, while serum CK did not differ significantly between the two population samples. In amniotic fluid, very little or no PK or CK activity was found. However, the mean PK activity in amniotic fluid obtained from women carrying male fetuses was significantly higher than in those carrying female fetuses. At the present time, it is concluded that if a woman at risk for having a son with Duchenne dystrophy is seeking genetic counseling when already pregnant her serum PK or CK should be compared with that of normal female pregnant controls. It is also suggested that determination of pyruvate-kinase in fetal blood might be used in addition to CK for prenatal diagnosis of Duchenne muscular dystrophy.


Subject(s)
Creatine Kinase/analysis , Genetic Carrier Screening , Genetic Counseling , Muscular Dystrophies/genetics , Pyruvate Kinase/analysis , Adult , Amniocentesis , Amniotic Fluid/enzymology , Female , Genes, Recessive , Humans , Male , Maternal Age , Muscular Dystrophies/prevention & control , Pregnancy , Risk
19.
Am J Med Genet ; 12(4): 369-70, 1982 Aug.
Article in English | MEDLINE | ID: mdl-7124791
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