[Clinical implementation of non-invasive prenatal study for detecting aneuploidies by fetal DNA based on single nucleotide polymorphisms: two years in Mexico]. / Implementación clínica del estudio prenatal no invasivo para Ia detección de aneuplodías mediante ADN fetal con base en polimorfismos de nucleótido único: dos años en México.

BACKGROUND: Recent data have shown that non invasive prenatal test (NIPT) for the detection of fetal aneuploidies (chromosomes 13, 18, 21, X, Y, and triploidy) by cell free fetal DNA in maternal blood (cfDNA) is a clinical reality, with detection rates > 99% and false positive rates of 0.1%. Results that exceed the first trimester screening. OBJECTIVE: To describe our experience of 2 years integrating NIPT by cfADN in its variant of single nucleotide polymorphism (SNPs) as a screening method for the detection of common aneuploidies, since nine weeks of gestation. PATIENTS AND METHODS: Observational prospective study from March 2013 to February 2015. Women with a singleton pregnancy were offered conventional prenatal screening fetal aneuploidy and or new alternative NIPT-SNPs. RESULTS: 270 women were included,the mean maternal age was 35.3 years with a mean gestational age of 11.85 weeks. The result was obtained in 98.5%, with an average report time of 7.5 working days. Blood collection was repeated in fifteen patients, obtaining the result in eleven. The NIPT tested positive for ten cases, 8 for trisomy 21, one for trisomy 18 and one trisomy 13. CONCLUSIONS: We describe our first two years of integrating NIPT-SNPs to obstetric private practice, that is an alternative screening with the potential to be incorporated into theexisting algorithms in prenatal care, from the ninth week of gestation. We expect this information will motivate a debate on the issue of prenatal screening and get to improve obstetric care and genetic counseling in Mexico.

[The impact of prolactinoma in human reproduction]. / Impacto del prolactinoma en la reproducción humana.

AIMS: Prolactinomas represent a 60% of pituitary tumors with various symptoms, hormonal and reproductive abnormalities. OBJECTIVE: Assessment of epidemiology of prolactinomas in our hospital. PATIENTS AND METHOD: We reviewed the clinical charts of 32 patients seen throughout 1991-2001. RESULTS: Twenty seven patients (84%) were females and 5 (16%) males. Average age was 30.3 +/- SD 11.3 years with a range of 6 to 58 years. Menstrual irregularities was the most frequent finding in patients with micro and macroadenoma; infertility was seen in 4 (33%) patients with pituitary microadenoma and 2 (10%) with macroadenoma. A patient with macroadenoma had delayed puberty and another with microadenoma isosexual precocious puberty. All cases showed hyperprolactinemia (microadenomas x 94.5 +/- SD 96.4 ng/mL; macroadenomas x 108.8 +/- SD 79.4 ng/mL). Hypothyroidism and hypogonadal hypogonadotropism were the most common associated diagnoses before an after treatment for both groups. Radiologic presence of microadenoma was observed in 12 (38%) patients and in 20 (26%) with macroadenoma. Bitemporal hemianopsia was the most common finding during visual field evaluation (28% microadenoma, 44% macroadenoma). Pharmacologic treatment with bromocriptine (2.5 - 7.5 mg) prevailed and showed a major impact upon symptoms improvement and significant decrease of serum prolactin levels (p < 0.05). Only five patients out of 20 who underwent surgery developed transient diabetes insipidus. Tumor relapse was observed in 10 (63%) of 16 patients with macroadenomas that required surgery. CONCLUSIONS: In our study prolactinomas prevailed among females in reproductive age with a higher incidence of macroadenomas. The most common alterations related to reproductive tract were menstrual irregularities, galactorrhea, infertility, hyperprolactinemia, hypogonadism and hypothyroidism. Abnormalities of puberty were also seen. Treatment with dopaminergic agonists (bromocriptine) was highly effective to decrease prolactin circulating levels.

[Pharmacologic cure of a pituitary macroprolactinoma]. / Curación de tumor hipofisiario (macroprolactinoma) con un fármaco.

We describe herein a 38 year old male who complained of persistent cephalalgias during six months which were associated to hyperprolactinemia and a pituitary macroprolactinoma shown by MRI. The patient was treated with cabergoline (0.5 mg/week) and remained asymptomatic for a year. The last MRI showed a normal pituitary.