Objectives. To describe and evaluate the outcome of highly complex assisted reproduction treatments in the Reproductive MedicineService of the INMP in the period August-November 2014. Material and methods. Descriptive, observational and retrospectivestudy. We included all patients with indications of highly complex assisted reproduction treatments who received at least one InVitro Fertilization cycle during August-November 2014. Each patient received a cycle of ovarian stimulation with recombinantfollicle stimulating hormone (FSH-r) and / Or Highly Purified Human Menopause Hormone (HMG-HP), Cetrorelix and ChorionicGonadotropin (HCG) Hormone. All patients received a regimen of controlled ovarian stimulation, follicular aspiration, In VitroFertilization and Embryo Transfer in the Reproductive Medicine Service and Laboratory of Gametes and Embryos of the INMP. Day3 embryos (stage D + 3) wer...

Objectives. To describe and evaluate the outcome of highly complex assisted reproduction treatments in the Reproductive MedicineService of the INMP in the period August-November 2014. Material and methods. Descriptive, observational and retrospectivestudy. We included all patients with indications of highly complex assisted reproduction treatments who received at least one InVitro Fertilization cycle during August-November 2014. Each patient received a cycle of ovarian stimulation with recombinantfollicle stimulating hormone (FSH-r) and / Or Highly Purified Human Menopause Hormone (HMG-HP), Cetrorelix and ChorionicGonadotropin (HCG) Hormone. All patients received a regimen of controlled ovarian stimulation, follicular aspiration, In VitroFertilization and Embryo Transfer in the Reproductive Medicine Service and Laboratory of Gametes and Embryos of the INMP. Day3 embryos (stage D + 3) wer...

Chromosomal deletions are structural abnormalities that cause loss of genomic material, depending on itslength they use to generate several disabling genetic conditions. Interstitial deletion of chromosome 17 shortarm in 17p11.2 region is related to the appearance of phenotypic characteristics related to a genetic conditionknown as Smith-Magenis syndrome. This deletions spans in a range between <1.5 and 9 Mb, shows somefeatures as craniofacial dysmorphia, delayed psychomotor development, speech problems, sleep disorders,limb abnormalities, malformations of brain, heart and kidney also are expressed. We present a case of a 10monthsold girl with brachycephaly, bulging forehead, sunken eyes, epicanthal folds, malformed ears, shortphiltrum, small mouth and ventriculomegaly. The gir´sl karyotype was 46,XX,del(17)(p11.2), no moleculartests were performed because they were not available, bu...

We describe the case of a male term neonate with psychomotor development anomalies, craniofacial defects, limbs and genital anomalies, born at Instituto Nacional Materno Perinatal in which an interstitial chromosomal deletion was found in the long arm of chromosome 4. The karyotype of the newborn was 46, XY, del (4) (q22q25) de novo. The phenotypic traits observed in the propositus were compatible with 4q- syndrome.

Chromosomal deletions are structural abnormalities that cause loss of genomic material, depending on itslength they use to generate several disabling genetic conditions. Interstitial deletion of chromosome 17 shortarm in 17p11.2 region is related to the appearance of phenotypic characteristics related to a genetic conditionknown as Smith-Magenis syndrome. This deletions spans in a range between <1.5 and 9 Mb, shows somefeatures as craniofacial dysmorphia, delayed psychomotor development, speech problems, sleep disorders,limb abnormalities, malformations of brain, heart and kidney also are expressed. We present a case of a 10monthsold girl with brachycephaly, bulging forehead, sunken eyes, epicanthal folds, malformed ears, shortphiltrum, small mouth and ventriculomegaly. The gir´sl karyotype was 46,XX,del(17)(p11.2), no moleculartests were performed because they were not available, bu...

We describe the case of a male term neonate with psychomotor development anomalies, craniofacial defects, limbs and genital anomalies, born at Instituto Nacional Materno Perinatal in which an interstitial chromosomal deletion was found in the long arm of chromosome 4. The karyotype of the newborn was 46, XY, del (4) (q22q25) de novo. The phenotypic traits observed in the propositus were compatible with 4q- syndrome.

In Vitro Fertilization (IVF) is an assisted reproduction procedure of high complexity that we use in the management of the infertile couple. The aim of this article is the dissemination of the first IVF in a public institution such as the National Maternal and Perinatal Institute, resulting in the birth of two normal newborns.

Trisomy 8 is an uncommon anomaly in neonates, frequently being a lethal condition among individuals with pure trisomiclines and more tolerable in mosaics cases. This aneuploidy is mainly characterized by a moderate - severe intellectual deficitand poor motor coordination. Affected individuals presents craniofacial malformations, prominent forehead, arched palate,deformed ears with low implantation, elongated trunk, reduced motility, articular defects and deep plantar grooves, which isone of the main characteristics of this condition. Abnormalities of internal organs are of varying severity. We present the reportof two cases of trisomy 8 or Warkany syndrome 2 born at Instituto Nacional Materno Perinatal.

In Vitro Fertilization (IVF) is an assisted reproduction procedure of high complexity that we use in the management of the infertile couple. The aim of this article is the dissemination of the first IVF in a public institution such as the National Maternal and Perinatal Institute, resulting in the birth of two normal newborns.

Trisomy 8 is an uncommon anomaly in neonates, frequently being a lethal condition among individuals with pure trisomiclines and more tolerable in mosaics cases. This aneuploidy is mainly characterized by a moderate - severe intellectual deficitand poor motor coordination. Affected individuals presents craniofacial malformations, prominent forehead, arched palate,deformed ears with low implantation, elongated trunk, reduced motility, articular defects and deep plantar grooves, which isone of the main characteristics of this condition. Abnormalities of internal organs are of varying severity. We present the reportof two cases of trisomy 8 or Warkany syndrome 2 born at Instituto Nacional Materno Perinatal.