El síndrome costillas cortas polidactilia es una categoría descriptiva para un grupo de displasias esqueléticas incompatibles con la vida, caracterizadas por tórax estrecho, costillas extremadamente pequeñas, micromelia, polidactilia y anomalías viscerales. Las 4 variantes establecidas son SRPS I (tipo Saldino-Noonan), SRPS II (tipo Majewski), SRPS III (tipo Verma-Naumoff) y SRPS IV (tipo Beemer-Langer). Se piensa que todas las variantes son heredadas en forma autosómica recesiva. Debido a la frecuente superposición fenotípica, existe controversia si las variantes son debidas a expresión variable o a heterogeneidad genética. Presentamos un caso de un feto masculino, con signos ecográficos característicos de displasia esquelética, tales como micromelia, tórax estrecho en forma de campana, hipertelorismo, implantación baja de las orejas y polidactilia, que nació de parto v...

Placental mesenchymal dysplasia is a rare condition of placentomegaly and abnormal chorionic villous, often clinically confused as partial hydatidiform mole. However, it is different clinically and pathologically, with high incidence of intrauterine growth restriction and stillbirth. We present the clinical course of a pregnant woman carrying placental mesenchymal dysplasia, the first case diagnosed at the Maternal Perinatal National Institute, how to suspect diagnosis and gestational care. There was need for caesarean section at 27 weeks gestation, obtaining a 1 048 g newborn girl, with Apgar 8 at the first minute and 9 at the fifth minute, bloody amniotic fluid in regular quantity and placentomegaly. Patient evolved satisfactorily and was discharged on the third hospitalization day. An abdominal liver tumor was confirmed in the newborn and surgical pathology report was liver mesenchyma...

This paper refers to primary prevention of preeclampsia. As preeclampsia etiology is unknown and no trustworthy screening tests exist, it is difficult to develop rational prevention strategies. Current prevention strategies are basically nutritional supplementation and pharmacologic therapy.

Objectives: To determine the frequency and type of intrauterine invasive procedures performed at a unit of fetal medicine and cytogenetic results, immediate complications and indications for chorionic villous sampling and amniocentesis. Design: Observational, retrospective and transversal type study. Setting: Fetal Medicine Unit, Instituto Nacional Materno Perinatal, Lima, Peru. Participants: Pregnant women who accepted an intrauterine invasive procedure. Interventions: Intrauterine invasive procedures in pregnant women were done for various reasons from April 2005 through April 2007. We determined each procedure frequency and compared cytogenetic results, indications and immediate complications of genetic amniocentesis and chorionic villous sampling. Main outcome measures: Characteristics of intrauterine invasive procedures, cytogenetic results and complications. Results: During the 25 ...

OBJETIVES: To determine the frequency of stillbirth (IUFD) IV in a hospital level of care. MATERIALS AND METHODS: We reviewed the clinical records of all cases of stillbirths recorded in the database of the Directorate of Statistics and Informatics Specialized Maternal Perinatal Institute (IME), occurred between January 1 and December 31, 2003 . Relevant data were processed using the Perinatal Information System V 1.5. RESULTS: During the study period there were a total of 17,869 births, of which 130 were for intrauterine fetal deaths, giving a rate of 7.33 per thousand RNV. Maternal pathologies associated were: anemia in 40% of cases, preterm labor (33.1%) and preeclampsia / eclampsia (15.5%). The fetal pathology associated consisted of premature rupture of membranes, intrauterine growth restriction and congenital malformations. 9.2% of intrapartum IUFD presented. CONCLUSIONS: The rate...

The most important issue in preeclampsia management is an adequate prenatal care in order to identify high risk women as well as early recognition of clinical signs and symptoms and progression to severe stages. The main objective in treatment is maternal safety. Decision to end gestation or expectant management will depend on gestational age, fetal and maternal condition, labor or no labor and membranes status.

Severe fetal anemia can be detected in utero through the measurement of the maximum systolic velocity of the Middle Cerebral Artery (VSmax-MCA). The false positive rate of this measurement technique is unfortunately high (34%), which is why the maternal-fetal clinical correlate is suggested and conditions that falsely elevate the SPV are ruled out before making any decision regarding the diagnosis of fetal anemia. We present a case of a fetus with altered VSmax-ACM above 1.5 MoM who was born with normal hemoglobin values.

Objectives: To determine the frequency and type of intrauterine invasive procedures performed at a unit of fetal medicine and cytogenetic results, immediate complications and indications for chorionic villous sampling and amniocentesis. Design: Observational, retrospective and transversal type study. Setting: Fetal Medicine Unit, Instituto Nacional Materno Perinatal, Lima, Peru. Participants: Pregnant women who accepted an intrauterine invasive procedure. Interventions: Intrauterine invasive procedures in pregnant women were done for various reasons from April 2005 through April 2007. We determined each procedure frequency and compared cytogenetic results, indications and immediate complications of genetic amniocentesis and chorionic villous sampling. Main outcome measures: Characteristics of intrauterine invasive procedures, cytogenetic results and complications. Results: During the 25 ...

This paper refers to primary prevention of preeclampsia. As preeclampsia etiology is unknown and no trustworthy screening tests exist, it is difficult to develop rational prevention strategies. Current prevention strategies are basically nutritional supplementation and pharmacologic therapy.

The most important issue in preeclampsia management is an adequate prenatal care in order to identify high risk women as well as early recognition of clinical signs and symptoms and progression to severe stages. The main objective in treatment is maternal safety. Decision to end gestation or expectant management will depend on gestational age, fetal and maternal condition, labor or no labor and membranes status.

OBJETIVES: To determine the frequency of stillbirth (IUFD) IV in a hospital level of care. MATERIALS AND METHODS: We reviewed the clinical records of all cases of stillbirths recorded in the database of the Directorate of Statistics and Informatics Specialized Maternal Perinatal Institute (IME), occurred between January 1 and December 31, 2003 . Relevant data were processed using the Perinatal Information System V 1.5. RESULTS: During the study period there were a total of 17,869 births, of which 130 were for intrauterine fetal deaths, giving a rate of 7.33 per thousand RNV. Maternal pathologies associated were: anemia in 40% of cases, preterm labor (33.1%) and preeclampsia / eclampsia (15.5%). The fetal pathology associated consisted of premature rupture of membranes, intrauterine growth restriction and congenital malformations. 9.2% of intrapartum IUFD presented. CONCLUSIONS: The rate...

Severe fetal anemia can be detected in utero through the measurement of the maximum systolic velocity of the Middle Cerebral Artery (VSmax-MCA). The false positive rate of this measurement technique is unfortunately high (34%), which is why the maternal-fetal clinical correlate is suggested and conditions that falsely elevate the SPV are ruled out before making any decision regarding the diagnosis of fetal anemia. We present a case of a fetus with altered VSmax-ACM above 1.5 MoM who was born with normal hemoglobin values.

We present a prenatal diagnosis case with false negative result in long term villi culture discordant with short term villi culture showing trisomy 21. We discuss possible causes of discordance in this and similar cases and the best way to proceed to ensure correct diagnosis.

We present a case of non-immune hydrops fetalis diagnosed by antenatal ultrasound at 31 weeks of gestation . Fetal karyotyping of blood sample obtained by cordocentesis was abnormal. The fetus died 6 days later. Postmortem examination was compatible with Down syndrome. We report the possibility of antenatal hydrops fetalis diagnosis by invasive techniques.

We present a case of siamese twins diagnosed by ultrasound as thoraco-omphalopagus joint fetuses, at Instituto Nacional Materno Perinatal (Ex Maternidad de Lima). We summarize the clinical history, necropsy protocol and present a short bibliography.

We present a case of siamese twins diagnosed by ultrasound as thoraco-omphalopagus joint fetuses, at Instituto Nacional Materno Perinatal (Ex Maternidad de Lima). We summarize the clinical history, necropsy protocol and present a short bibliography.

Background: The finding of short femur (length below the 5th centile) at second trimester ultrasound examination is a diagnostic challenge. Classically, the short femur has been associated to chromosomal abnormalities and skeletal dysplasias. A few reports have been published on fetuses with isolated short femur outcomes. Objectives: To determine perinatal outcomes in the second-trimester fetuses with isolated short femur and to determine its association with fetal growth restriction. Design: Retrospective cohort study, also called historical or concurrent study. Setting: Fetal Medicine Unit, Instituto Nacional Materno Perinatal, Lima, Peru. Participants: Women with 16 to 28 weeks pregnancies. Interventions: The sample size was drawn from our 2006-2008 databases and consisted in 278 fetuses 16 to 28 weeks who had ultrasound examination. We categorized two groups: fetuses with isolated sh...

Background: The finding of short femur (length below the 5th centile) at second trimester ultrasound examination is a diagnostic challenge. Classically, the short femur has been associated to chromosomal abnormalities and skeletal dysplasias. A few reports have been published on fetuses with isolated short femur outcomes. Objectives: To determine perinatal outcomes in the second-trimester fetuses with isolated short femur and to determine its association with fetal growth restriction. Design: Retrospective cohort study, also called historical or concurrent study. Setting: Fetal Medicine Unit, Instituto Nacional Materno Perinatal, Lima, Peru. Participants: Women with 16 to 28 weeks pregnancies. Interventions: The sample size was drawn from our 2006-2008 databases and consisted in 278 fetuses 16 to 28 weeks who had ultrasound examination. We categorized two groups: fetuses with isolated sh...

Sacrococcygeal teratoma is a rare fetal disease but with high perinatal mortality due to sequestration of blood flow and consequent development of severe fetal anemia. We present the case of a 27 weeks pregnant woman referred to our service for prenatal management of a fetus with giant sacrococcygeal teratoma and severe anemia and who was subjected to intrauterine intravascular transfusion that could permit prolongation of the pregnancy and improve perinatal results.