Lorna Timmreck

Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey.

Abstract Objective To determine the risk of death in pregnant women with Turner syndrome who were treated with oocyte donation, and to ascertain the prevalence of preconception cardiac screening in these patients. Design Survey and literature review. Setting Academic infertility center. Participant(s) All 258 donor-egg programs in the 1997 Assisted Reproductive Technology Success Rates publication from the Society for Artificial Reproductive Technology were surveyed by fax or telephone. Main outcome measure(s) Death in pregnancy conceived through oocyte donation and proportion of patients prescreened with echocardiography. Result(s) One hundred thirty-four (52%) programs reported 146 Turner patients treated, resulting in 101 pregnancies. One patient died from aortic rupture while awaiting treatment; 72 (49.3%) patients were pre- screened with echocardiography. No deaths in pregnancy were reported. A literature review identified four case reports of Turner patients who died during pregnancy in the United States during the same time period. Conclusion(s) The maternal risk of death from rupture or dissection of the aorta in pregnancy may be 2% or higher. Patients with Turner syndrome have not been adequately screened with echocardiography before treatment. Specialists who treat patients with Turner syndrome need to be aware of their cardiac risk and its potential exacerbation from the increased cardiac demands of pregnancy.

Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.

The relationship between cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations and congenital absence of the uterus and vagina (CAUV) was examined. CFTR mutations have previously been associated with congenital bilateral absence of the vas deferens (CBAVD). CBAVD is caused by a disruption in the vas deferens, a Wolffian duct derivative. Because the embryologic development of the Müllerian ducts directly depends on the prior normal development of the Wolffian ducts, the same gene products may be necessary for normal embryologic development of both ductal systems. This study evaluated the role of CFTR mutations in the development of CAUV. DNA samples from 25 patients with CAUV were tested for the presence of 33 of the most common CFTR mutations. Protein‐coding DNA fragments from the CFTR gene were amplified in vitro by the polymerase chain reaction (PCR) and analyzed for mutations using allele‐specific oligonucleotide (ASO) probes. Two patients were heterozygous for CFTR mutations. One was heterozygous for the W1282X mutation and the other was heterozygous for the ΔF508 mutation. The incidence of the 33 CFTR mutations found in the patients with CAUV (8%) was twice that found in the general population (4%), but much less than the incidence of CFTR mutations in men with CBAVD (80%). This data suggests that it is unlikely for CFTR mutations to cause CAUV in females as they cause CBAVD in some males. Furthermore, the data suggest that CAUV in females may be the same disorder as CBAVD in males who do not have CFTR mutations.

WNT7A mutations in patients with Müllerian duct abnormalities.

STUDY OBJECTIVE WNT7A gene mutations were evaluated as a potential cause for Müllerian duct derivative abnormalities in human females. The WNT gene family encodes glycoproteins that serve as signaling molecules during early development. The WNT7A gene has been previously identified as necessary for normal murine Müllerian duct development. WNT7A mutant mice display several Müllerian duct derivative abnormalities. DESIGN Molecular genetic analysis of female patients with Müllerian duct derivative abnormalities. SETTING Medical center-based academic research institution. PARTICIPANTS 40 women with developmental abnormalities of the uterus and vagina and 12 normal controls. INTERVENTIONS Polymerase chain reaction DNA amplification from human genomic DNA and denaturing gradient gel electrophoresis analysis of amplified DNA fragments. MAIN OUTCOME MEASURES Presence or absence of WNT7A gene mutations in analyzed DNA fragments. RESULTS No mutations were found in the WNT7A gene in any patient or control tested. CONCLUSIONS WNT7A mutations are an unlikely cause of Müllerian duct derivative abnormalities in humans.

Risk of Death in Pregnancy Achieved Through Oocyte Donation in Patients With Turner Syndrome: A National Survey

UNLABELLED To determine the risk of death in pregnant women with Turner syndrome who were treated with oocyte donation, and to ascertain the prevalence of preconception cardiac screening in these patients. DESIGN Survey and literature review. SETTING Academic infertility center. PARTICIPANT(S) All 258 donor-egg programs in the 1997 Assisted Reproductive Technology Success Rates publication from the Society for Artificial Reproductive Technology were surveyed by fax or telephone. MAIN OUTCOME MEASURE(S) Death in pregnancy conceived through oocyte donation and proportion of patients prescreened with echocardiography. RESULTS One hundred thirty-four (52%) programs reported 146 Turner patients treated, resulting in 101 pregnancies. One patient died from aortic rupture while awaiting treatment; 72 (49.3%) patients were pre- screened with echocardiography. No deaths in pregnancy were reported. A literature review identified four case reports of Turner patients who died during pregnancy in the United States during the same time period. CONCLUSION(S) The maternal risk of death from rupture or dissection of the aorta in pregnancy may be 2% or higher. Patients with Turner syndrome have not been adequately screened with echocardiography before treatment. Specialists who treat patients with Turner syndrome need to be aware of their cardiac risk and its potential exacerbation from the increased cardiac demands of pregnancy.