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2.
Prenat Diagn ; 28(3): 191-6, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18264965

ABSTRACT

OBJECTIVE: To compare ultrasound diagnosis with autopsy findings in two tertiary referral foetal medicine centres, only one routinely using 3D and 4D ultrasound, and to compare results between the centres. METHODS: A retrospective study of 138 cases with a termination of pregnancy for foetal abnormalities after 21 weeks' gestation from January 2004 through May 2006 was carried out. We compared prenatal ultrasound and autopsy findings for each organ, calculating the sensitivity, specificity, positive predictive and negative predictive values, and false-positive and false-negative rates for ultrasound. RESULTS: Abnormalities were found most frequently in the brain (48.9%), heart and thorax (34.0%), limbs (31.9%), face (15.9%), and abdomen, urogenital tract and spine (14.5%). Sensitivity between centres did not differ statistically for the brain, spine, limbs and abdomen, but was different for the face (p = 0.005) and heart (p = 0.007). The detection rate was higher for facial malformations at the centre with routine 3D and 4D scans, and better for the heart and thorax at the other centre. CONCLUSION: Diagnostic ultrasound cannot give a complete assessment of foetal anatomy. Autopsy examination is always strongly recommended for accurate genetic counselling. As already reported, 3D and 4D ultrasound may improve ultrasound performance in facial anomalies.


Subject(s)
Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/pathology , Referral and Consultation , Ultrasonography, Prenatal , Autopsy , Female , Gestational Age , Humans , Pregnancy , Pregnancy Outcome , Retrospective Studies , Sensitivity and Specificity
3.
Fertil Steril ; 90(4): 1199.e25-8, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18155199

ABSTRACT

OBJECTIVE: To report a successful pregnancy after a semi-natural IVF cycle for a BRCA1 gene mutation carrier. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 26-year-old patient with BRCA1 gene mutation. INTERVENTION(S): Semi-natural IVF cycle and intracytoplasmic sperm injection. MAIN OUTCOME MEASURE(S): Pregnancy rate. RESULT(S): A modified natural IVF cycle was performed, resulting in pregnancy and delivery. CONCLUSION(S): A modified natural IVF cycle is an effective and safe solution for BRCA1 or BRCA2 mutation gene carrier women with couple infertility.


Subject(s)
BRCA1 Protein/genetics , Fertilization in Vitro , Infertility, Female/genetics , Infertility, Female/therapy , Live Birth , Ovulation Induction/methods , Sperm Injections, Intracytoplasmic , Adult , Female , Heterozygote , Humans , Mutation , Treatment Outcome
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