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D A Luthy

Publications and source records attributed to D A Luthy.

At least 55 records · Page 3Linked to original sources
PubMed1990

Femur length shortening in the detection of Down syndrome: is prenatal screening feasible?

The potential utility of screening for femur length shortening in prenatal detection of Down syndrome (trisomy 21) was evaluated by comparing 49 consecutive fetuses with Down syndrome with 572 chromosomally normal fetuses before genetic amniocentesis. Ratios of measured femur length/predicted femur length and biparietal diameter/femur length were calculated for each fetus. The predicted femur length was calculated from a regression equation relating the biparietal diameter and femur length derived from a sample control group. With this normal regression equation, 7 of 49 (14.3%) fetuses with Down syndrome had short femur lengths (measured femur length/predicted femur length ratio of less than or equal to 0.91) compared with 35 of 572 (6.1%) fetuses with a normal karyotype (p less than 0.05). However, the maximum positive predictive value for identification of Down syndrome based on short femur lengths was only 0.93% for a high-risk population (prevalence of Down syndrome, 1:250) and 0.33% for a low-risk population (prevalence of Down syndrome, 1:700). We conclude that ultrasonographic screening of short femur length is less effective for prenatal detection of Down syndrome than initially suggested.

Cephalometry↗
PubMed1990

The "stuck twin" phenomenon: ultrasonographic findings, pregnancy outcome, and management with serial amniocenteses.

Thirteen consecutive twin pregnancies affected by the "stuck twin" phenomenon were reviewed to determine the potential benefit of serial amniocenteses. The fetal survival rate for the eight pregnancies that underwent serial amniocenteses was 69% (11 of 16 fetuses). This is significantly improved compared with a fetal survival rate of 20% among the five preceding pregnancies managed without serial amniocenteses at the same institution (p = 0.01). It is also markedly improved compared with a combined fetal survival rate of 16% among 48 previously reported pregnancies with the stuck twin phenomenon managed without serial amniocenteses (p less than 0.0001). Survival correlated with the absence of concomitant pregnancy complications (i.e., maternal hypertension or intractable labor) and with the absence of severe fetal structural abnormalities. Procedural complications occurred in three of eight pregnancies (37.5%) managed with serial amniocenteses and was attributed as a cause of fetal death in one case. Two of 11 survivors (18%) had complications after serial amniocenteses including brain infarction and renal tubular necrosis. Serial amniocenteses may significantly improve the survival rate of twin gestations affected by the stuck twin phenomenon but may be associated with complications among survivors.

Amniocentesis↗
PubMed1990

Meckel-Gruber syndrome. Importance of prenatal diagnosis.

Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.

Abnormalities, Multiple↗
PubMed1990

Translabial ultrasound of the third-trimester uterine cervix. Correlation with digital examination.

This prospective blinded study compared translabial ultrasound (TLU) and digital palpation of the cervix among women whose cervix could not be visualized adequately or at all with transabdominal ultrasound during the third trimester of pregnancy. The cervical canal and internal cervical os were adequately visualized during 109 of 113 TLUs (96%). The TLU was well tolerated by the patients; only two patients refused the TLU pending discussion of the technique with their obstetrician. Among 43 examinations of patients without clinical cervical effacement, TLU showed a cervical length of 2.5 to 4.2 cm (mean, 2.9 cm). An excellent correlation (R = 0.90) was noted between cervical length on TLU and percentage of cervical effacement on digital examination. The correlation between amount of cervical dilatation on TLU and on digital examination was not high (R = 0.58). We conclude that the measurements of cervical length on TLU correlate well with the amount of cervical effacement on digital examination and that TLU provides a rapid and well-tolerated alternative technique to visualize the third-trimester uterine cervix.

Cervix Uteri↗
PubMed1990

Prenatal sonographic findings of Down syndrome: review of 94 cases.

Prenatal ultrasound findings were reviewed in 94 consecutive fetuses with proved Down syndrome (trisomy 21) during a 6-year period at a single institution. One or more abnormalities were found in 31 fetuses (33%), including two of 11 fetuses seen before 14 weeks, 17 of 68 fetuses seen between 14-24 weeks, and 12 of 15 fetuses seen after 24 weeks. Major anomalies detected included cardiac defects (five), duodenal atresia (four), cystic hygromas (four), omphalocele (two), hydrops (two), and hydrothorax (one). Nuchal thickening was observed in five fetuses, including four of 25 second-trimester fetuses evaluated prospectively during the last 2 years of the study. Mild cerebral ventricular dilatation (three) and hyperechogenic bowel (five) are new findings that have not been generally associated with Down syndrome. A variety of prenatal sonographic abnormalities may be associated with Down syndrome, and the frequency of detecting most abnormalities increases with menstrual age. Anomalies more frequently detected before 20 weeks include cystic hygromas, nuchal thickening, and hyperechogenic bowel. Awareness of the sonographic findings associated with Down syndrome should result in improved detection of this disorder.

Abnormalities, Multiple↗
PubMed1989

Fetal monitoring and predictions by clinicians: observations during a randomized clinical trial in very low birth weight infants.

Predictions about perinatal outcome in very low birth weight infants were studied in a randomized clinical trial of electronic fetal monitoring and periodic auscultation to assess the effect of diagnostic monitoring information on clinicians' ability to predict perinatal outcomes. The only predictions consistently correct before monitoring information was available were those regarding infant survival (88% correct, kappa [kappa] = 0.40, P less than .001 for the electronic fetal monitoring group; 80% correct, kappa = 0.35, P less than .01 for the periodic auscultation group). After monitoring, predictions of 5-minute Apgar scores and arterial cord pH were significantly more accurate, and clinicians' confidence in their predictions increased significantly in both the electronic fetal monitoring and the auscultation groups. Predictions of 5-minute Apgar scores were significantly more accurate in the electronic fetal monitoring group (92% correct, kappa = 0.80) than in the periodic auscultation group (61% correct, kappa = 0.28) (Z difference = 3.04; P less than .01). We conclude that clinicians gain information during intrapartum monitoring that generally leads to improved predictions and increased confidence in predictions. In this study, they made more accurate predictions about 5-minute Apgar scores with electronic fetal monitoring, suggesting that electronic fetal monitoring may provide better information about neonatal well-being than does periodic auscultation. Improved information, as measured by clinical predictions, is probably highly valued by patients and clinicians and may be an important determinant of acceptance of this diagnostic technology.

Apgar Score↗
PubMed1988

Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery.

Maternal serum alpha-fetoprotein (MS-AFP) screening has become part of routine obstetric care. Although elevated MS-AFP was originally associated with neural tube defects (NTD), it is also able to detect several fetal anomalies of interest to a pediatric surgeon, ie, ventral abdominal wall defects, intestinal atresias, and sacrococcygeal teratomas. Previously, decreased MS-AFP had only been associated with fetal trisomies, but not surgically correctable lesions. In the present study, we review our recent experience with both elevated and decreased MS-AFP as a marker to detect fetal anomalies of concern to the pediatric surgeon. Forty-one fetal anomalies were associated with 333 pregnancies referred for follow-up after abnormal MS-AFP screening results from November 1985 through November 1986. One hundred ninety-six were elevated and 139 were decreased. In most cases, evaluation included counseling, repeat MS-AFP, level II ultrasound, and amniocentesis. This revealed elevated MS-AFP to be associated with 32 (16.3%) anomalies (2 NTD, 5 anencephalics, 5 ventral abdominal wall defects, 1 stage IV-S neuroblastoma, 1 renal anomaly, 1 ventriculomegaly, 15 fetal demises, and 2 fetal-maternal bleeds). Decrease in MS-AFP was associated with nine (6.4%) anomalies (2 congenital diaphragmatic hernias, 3 Down's syndrome, 1 Turner's syndrome, 2 duodenal atresias, and 1 choroid plexus cyst). In this study, MS-AFP detected several fetal anomalies known to be associated with abnormal MS-AFP and three anomalies not previously described (congenital diaphragmatic hernia, neuroblastoma, and choroid plexus cyst). Elevated as well as decreased MS-AFP are significant and should be pursued by a full prenatal evaluation.(ABSTRACT TRUNCATED AT 250 WORDS)

Algorithms↗
PubMed1988

Intraperitoneal fetal transfusion under direct ultrasound guidance.

The outcomes of 77 fetal intraperitoneal transfusions in 35 pregnancies managed with direct ultrasound guidance and intensive perinatal management were reviewed. Patients were monitored with amniocentesis, and standard indications were used for timing of transfusions. The mean gestational age at first transfusion was 27.3 weeks (range 22-33). The overall mortality rate was 14% (five of 35). No immediate transfusion-related deaths occurred; all fetuses who were not hydropic at first transfusion survived (26 of 26). The mean gestational age at delivery was 33.6 weeks (range 25-36). One infant developed respiratory distress syndrome (RDS). Transfusion-related complications occurred in five cases (fetal colon infusions in two, fetal retroperitoneal infusion in two, and fetal abdominal wall hematoma in one). None of these infants required urgent delivery or suffered long-term sequelae. In nonhydropic fetuses, intraperitoneal transfusions under direct ultrasound guidance had a low incidence of morbidity and no mortality. These results should provide baseline data against which to compare new techniques, such as direct cord transfusion. With neonatal mortality rates of 10% and significant morbidity rates of 10-20% in infants delivered at 32 weeks who develop RDS, intraperitoneal transfusion should be considered in the 32- to 33-week fetus with marked pulmonary immaturity.

Amniocentesis↗
PubMed1987

Maternal serum alpha-fetoprotein and fetal trisomy-21 in women 35 years and older: implications for alpha-fetoprotein screening programs.

A retrospective study of 3,411 women who underwent midtrimester amniocentesis for fetal chromosome analysis between June 1979 and August 1984 was performed to evaluate an association between low maternal serum alpha-fetoprotein (AFP) concentrations and Down syndrome (DS) pregnancies. A total of 71 pregnancies was found with abnormal fetal chromosomes; of these, 26 cases were trisomy-21 and 10 cases were trisomy-18. The maternal serum AFP in women with DS fetuses was relatively lower than levels in women with fetuses that had normal chromosomes. In addition, the AFP concentrations in amniotic fluid were decreased in cases involving DS fetuses. We have estimated the risks for DS pregnancy at all maternal ages and most serum AFP concentrations. Using these calculations, genetic counselors will be able to provide more accurate risk estimates for trisomy-21 following maternal serum AFP testing.

Adult↗
PubMed1987

Low material serum alpha-fetoprotein levels and congenital diaphragmatic defects.

We report on 2 cases of fetal congenital diaphragmatic defects with normal chromosomes among 105 patients referred for evaluation for low maternal serum alpha-fetoprotein (MSAFP) levels. The mechanism for this striking association is not clear. The association of low MSAFP levels and congenital diaphragmatic defects may have importance for MSAFP screening programs.

Adult↗
PubMed1987

Status of infants at birth and risk for adverse neonatal events and long-term sequelae: a study in low birth weight infants.

We evaluated the relationship of infant status at birth to neonatal morbidity and long-term development in 246 low birth weight infants (600 to 1750 gm). Nineteen percent of infants had 1-minute Apgar scores of less than or equal to 3, and 8% had an umbilical artery pH of less than or equal to 7.2. Acidosis was associated with an increased risk of grade 3 to 4 intracranial hemorrhage (odds ratio = 3.3). Low 1-minute Apgar score was associated with an increased risk of death (odds ratio = 4.8). Grade 3 to 4 intracranial hemorrhage was a strong risk factor for cerebral palsy among survivors (odds ratio = 16.1), as was low 1-minute Apgar score (odds ratio = 2.9). Only 15% of cases of cerebral palsy in this study were associated with acidosis at birth.

Acidosis↗
PubMed1987

The outcome of pregnancies diagnosed as having a fetus with meningomyelocele.

Forty-nine cases of meningomyelocele diagnosed in utero and another 10 cases delivered by prelabor cesarean section (N = 59) are compared to all other cases of meningomyelocele (N = 98) born following labor and seen during the same period. Prenatal diagnosis was established for 19 cases before and 30 cases after 24 weeks gestational age. Ten cases were delivered by prelabor cesarean section for maternal indications. Eight of 12 cases diagnosed before 24 weeks and given a guarded prognosis and one given a poor prognosis, elected cesarean section. One of the 8 was stillborn. Four of the 12 given a guarded prognosis and 6 an extremely poor prognoses elected termination of the pregnancy. Nineteen of the 30 cases diagnosed after 24 weeks were delivered by prelabor cesarean section and two by cesarean section after inadvertent labor. Of the 35 cases born by prelabor cesarean section, 48% have sacral levels or no loss of motor function compared to 14% of the 98 born after labor (P = 0.0001). We recommend prelabor cesarean section before onset of labor to preserve neural function of a baby with meningomyelocele and leg movement in utero when parents refuse termination or have a diagnosis made after 24 weeks gestational age.

Cesarean Section↗
PubMed1987

A randomized trial of electronic fetal monitoring in preterm labor.

Intrapartum electronic fetal heart rate (FHR) monitoring and fetal blood gas sampling were compared with periodic auscultation of FHR in a multicentered randomized trial of preterm singleton pregnancies with fetal weights of 700-1750 g. Two hundred forty-six pregnancies were studied (electronic FHR monitoring N = 122, auscultation N = 124). Perinatal or infant death was associated with 14% of pregnancies with electronic FHR monitoring and 15% with auscultation. No significant differences were noted in the prevalence of low five-minute Apgar scores, intrapartum acidosis, intracranial hemorrhage, or frequency of cesarean section (P greater than .10). Compared with electronic FHR monitoring, intrapartum auscultation as done in this study is unlikely to be associated with detectable differences in perinatal outcomes within the high-risk setting of preterm labor.

Apgar Score↗
PubMed1985

Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis.

Three successive pregnancies of a couple at risk for infantile polycystic kidney disease were evaluated by sequential ultrasound examinations to attempt prenatal diagnosis of the disorder. The gestational age at which renal sonographic changes were noted varied from 20 to 34 weeks and resulted in both false-positive and false-negative diagnoses.

Adult↗
PubMed1985

Fetal cystic adenomatoid malformation: prenatal diagnosis and natural history.

We studied the natural history and pathophysiology of congenital cystic adenomatoid malformation (CCAM) detected prenatally by ultrasound in twelve fetuses. Two types of fetal CCAM can be distinguished by gross anatomy, ultrasound findings, and prognosis. Microcystic lesions are usually associated with fetal hydrops and have a poor prognosis (five cases with one survivor). Antenatal diagnosis, maternal transport, and immediate thoracotomy after birth allowed the first reported survival of a newborn with a large microcystic CCAM. Macrocystic lesions are not usually associated with hydrops and have a favorable prognosis (five of seven survived). We conclude that fetuses with hydrops are at high risk for fetal or neonatal demise without intervention. Fetuses with CCAM but without hydrops have a good chance for survival with maternal transport, planned delivery, and immediate neonatal resuscitation and surgery.

Adult↗