P-077. Cytogenetic preconception diagnosis

Preconception and preimplantation diagnosis for cystic fibrosis.

Preimplantation diagnosis provides couples at high genetic risk the possibility of avoiding genetic disease without the need for prenatal diagnosis and selective abortion of the affected pregnancy. Following extensive background work on the reliability of genetic diagnosis in a single cell, we offered on a research basis preimplantation diagnosis to five couples at risk for offspring with the d...

Preconception genetic diagnosis of cystic fibrosis.

First pregnancies after preconception diagnosis of translocations of maternal origin.

OBJECTIVE To develop an approach to preimplantation diagnosis of translocations that would not require the use of specific DNA probes for each translocation type. DESIGN Retrospective analysis. SETTING Clinic. PATIENT(S) Two patients with 45XX,der(13;14)(q10;q10) karyotypes and one patient with a 46XX,t(4;14)(p15;q24) karyotype. INTERVENTION(S) Based on the observation that first polar ...

Preconception Diagnosis, Awareness, Advocacy for Safe Pregnancy, Safe Birth

Concept of preconception care, ‘care before pregnancy’, has emerged in recent years, as a potentially vital tool, not only for improving adolescent girls’ and women’s health during pregnancy, birth, but also future health. Objective: Study was done to collect information, about preconception care for better pregnancy outcome, future health of women. Methodology: Information was collected by sim...

Results and pitfalls in prenatal cytogenetic diagnosis.

Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results ofthe affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1 :47,XX,+21); (2) advanced maternal age: 54 cases (1 :47,XXY; 1 :45,X/46,XY mosaicism...