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1.
Int J Obstet Anesth ; 56: 103925, 2023 11.
Article in English | MEDLINE | ID: mdl-37832391

ABSTRACT

INTRODUCTION: Post-dural puncture headache (PDPH) occurs in 0.38-6.3% of neuraxial procedures in obstetrics. Epidural blood patch (EBP) is the standard treatment but fails to provide full symptom relief in 4-29% of cases. Knowledge of the risk factors for EBP failure is limited and controversial. This study aimed to identify these risk factors. METHODS: We performed a retrospective cohort study using electronic records of 47920 patients who underwent a neuraxial procedure between 2001 and 2018 in a large maternity hospital in Switzerland. The absence of full symptom relief and the need for further treatment was defined as an EBP failure. We performed univariate and multivariate analyses to compare patients with a successful or failed EBP. RESULTS: We identified 212 patients requiring an EBP. Of these, 55 (25.9%) had a failed EBP. Signs and symptoms of PDPH did not differ between groups. While needle size and multiple pregnancies were risk factors in the univariate analysis, mostly those related to the performance of the EBP remained significant following adjustment. The risk of failure increased when the epidural space was deeper than 5.5 cm (OR 3.08, 95% CI 1.26 to 7.49) and decreased when the time interval between the initial dural puncture and the EBP was >48 h (OR 0.20, 95% CI 0.05 to 0.83). CONCLUSION: Persistence of PDPH following a first EBP is not unusual. Close attention should be given to patients having their EBP performed <48 h following injury and having an epidural space located >5.5 cm depth, as these factors are associated with a failed EBP.


Subject(s)
Obstetrics , Post-Dural Puncture Headache , Humans , Pregnancy , Female , Post-Dural Puncture Headache/epidemiology , Post-Dural Puncture Headache/therapy , Retrospective Studies , Blood Patch, Epidural/methods , Risk Factors
2.
Int J Obstet Anesth ; 41: 83-103, 2020 02.
Article in English | MEDLINE | ID: mdl-31704251

ABSTRACT

BACKGROUND: Studies report an increased risk of maternal and fetal adverse side effects when combined spinal-epidural, rather than standard epidural, analgesia is provided for labour and delivery. Intrathecal opioids used with local anaesthetic in combined spinal-epidural analgesia may be a cause. It is not known whether this is due to the addition of opioid to local anaesthetic in the intrathecal space only or due to concomitant administration into the intrathecal and epidural spaces. METHODS: We searched for randomised trials comparing maternal, obstetrical and neonatal outcomes in parturients having combined spinal-epidural or standard epidural analgesia, and compared subgroups of patients according to the route of administration of opioids in combined spinal-epidural techniques. Studies were evaluated for eligibility and quality. Fixed and random-effects models were used for pooled data analysis and outcomes were compared using relative risk (RR) or mean difference with 95% confidence intervals (CI). RESULTS: We identified 1658 reports and 41 fully published randomised controlled trials. In patients who received combined spinal-epidural techniques, an increased risk of nausea/vomiting (RR 1.31, CI 1.0 to 1.72), pruritus (RR 4.26, CI 2.59 to 7.0) and fetal bradycardia (RR 2.38, CI 1.57 to 3.62) was observed regardless of the route of administration. In contrast, hypotension occurred more frequently after combined intrathecal and epidural opioid (RR 1.54, 1.22 to 1.93; P-value 0.02 for subgroup difference). CONCLUSION: For combined spinal-epidural techniques, the administration of opioids in combination with local anaesthetic, particularly when used in both the intrathecal and epidural space, should be carefully considered.


Subject(s)
Analgesia, Epidural/adverse effects , Analgesia, Obstetrical/adverse effects , Analgesics, Opioid/adverse effects , Analgesics, Opioid/administration & dosage , Female , Heart Rate, Fetal/drug effects , Humans , Hypotension/etiology , Postoperative Nausea and Vomiting/etiology , Pregnancy , Randomized Controlled Trials as Topic
3.
Int J Obstet Anesth ; 36: 17-27, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30392650

ABSTRACT

BACKGROUND: Post-dural puncture headache following trauma to the dural membrane during neuraxial anaesthesia occurs in 0.13-6.5% of pregnant patients. Identifying factors beyond individual performance that contribute to this adverse event is crucial to developing improvement strategies. METHODS: We used a root cause analysis framework, in a nested case-control study, to identify associated factors. Cases were all patients who had a post-dural puncture headache requiring an epidural blood patch. These patients were matched to a random group of control patients without post-dural puncture headache or known dural injury. Mixed logistic modelling was used. RESULTS: Within a dataset of 35 763 patients, we selected all 154 patients with post-dural puncture headache and compared them with 616 controls. Migraine (odds ratio [OR] 10.60, 95% CI 2.74 to 41.05), obstetric and perinatal pathology (OR 10.85, 95% CI 4.29 to 21.42), and multiple insertion attempts (OR 11.48, 95% CI 6.29 to 20.94), increased the risk of post-dural puncture headache. In contrast, training >3 years (OR 0.20, 95% CI 0.55 to 0.76) and a nurse anaesthetist present during the procedure (OR 0.05, 95% CI 0.01 to 0.29) decreased the risk. The anaesthetist's identity, the size of the labour room, the timing of the procedure or workload did not modify the risk. CONCLUSION: Post-dural puncture headache in this setting is not the result of the individual anaesthetist's characteristics alone. Additional factors including team composition, the presence of obstetrical perinatal pathology, and associated patient's conditions, are also associated with this event. Improvement strategies should consider all these factors.


Subject(s)
Anesthesia, Epidural/adverse effects , Anesthesia, Obstetrical/adverse effects , Anesthesia, Spinal/adverse effects , Post-Dural Puncture Headache/epidemiology , Pregnancy Complications/epidemiology , Root Cause Analysis/statistics & numerical data , Adult , Blood Patch, Epidural , Case-Control Studies , Comorbidity , Dura Mater , Female , Humans , Migraine Disorders/epidemiology , Post-Dural Puncture Headache/therapy , Pregnancy , Risk Factors , Root Cause Analysis/methods , Switzerland/epidemiology
4.
Acta Anaesthesiol Scand ; 61(9): 1203-1214, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28766691

ABSTRACT

BACKGROUND: Post-partum lower extremity motor and sensory dysfunctions occur in 0.1-9.2‰ of deliveries. While macrosomia, lithotomy position and forceps use are well-identified causes of peripheral nerve injuries, additional contributors such as patient condition and anaesthesia care may also have to be considered. METHODS: We performed a case-control study nested in a cohort of 19,840 patients having neuraxial anaesthesia for childbirth. Cases were all patients who developed motor or sensory dysfunction of lower extremities in the post-partum period. These were compared, using Chi-square, Fisher's exact test, logistic regression and time series, to a random sample of controls without any neurological symptoms or injury. RESULTS: We identified 19 (0.96‰) patients with peripheral nerve injuries of which 15 (0.76‰) were likely associated with obstetrical care. In four additional cases (0.20‰), a nerve root injury due to the Tuohy needle was suspected. Univariate risk factors were: a gestational age ≥ 41 weeks, Odds Ratio (OR) 3.8; 95% CI: 1.1-13.1, late initiation of neuraxial anaesthesia OR 8.2; 95% CI: 1.8-37.9, a repeated anaesthetic procedure OR 2.8; 95% CI: 1.0-7.8, assisted delivery with forceps OR 9.8; 95% CI: 1.2-114.1 and newborn birth weight > 3.5 kg with an OR 6.8; 95% CI: 2.0-22.5. CONCLUSION: Obstetrical related factors are the most prominent risk associated with peripheral nerve injuries. This study highlights however that patient and anaesthesia-related factors may also contribute to peripheral nerve injuries.


Subject(s)
Analgesia, Obstetrical/adverse effects , Anesthesia, Local/adverse effects , Peripheral Nerve Injuries/epidemiology , Peripheral Nerve Injuries/etiology , Adult , Birth Weight , Case-Control Studies , Cohort Studies , Delivery, Obstetric/adverse effects , Female , Humans , Incidence , Infant, Newborn , Needles/adverse effects , Obstetrical Forceps/adverse effects , Pregnancy , Risk Factors , Spinal Nerve Roots/injuries , Young Adult
5.
Med Teach ; 39(4): 360-367, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28379080

ABSTRACT

Clinical reasoning has been studied in residents or nurses, using interviews or patient-provider encounters. Despite a growing interest in interprofessional collaboration, the notion of collaborative reasoning has not been well studied in clinical settings. Our study aims at exploring resident-nurse collaborative reasoning in a simulation setting. We enrolled 14 resident-nurse teams from a general internal medicine division in a mixed methods study. Teams each managed one of four acute case scenarios, followed by a stimulated-recall session. A qualitative, inductive analysis of the transcripts identified five dimensions of collaborative reasoning: diagnostic reasoning, patient management, patient monitoring, communication with the patient, and team communication. Three investigators (two senior physicians, one nurse) assessed individual and team performances using a five-point Likert scale, and further extracted elements supporting the collaborative reasoning process. Global assessment of the resident-nurse team was not simply an average of individual performances. Qualitative results underlined the need to improve situational awareness, particularly for task overload. Team communication helped team members stay abreast of each other's thoughts and improve their efficiency. Residents and nurses differed in their reasoning processes, and awareness of this difference may contribute to improving interprofessional collaboration. Understanding collaborative reasoning can provide an additional dimension to interprofessional education.


Subject(s)
Cooperative Behavior , Education, Nursing , Internal Medicine/education , Interprofessional Relations , Nurses/psychology , Patient Care Team , Physicians/psychology , Humans , Internship and Residency , Qualitative Research
8.
Br J Anaesth ; 116(5): 670-9, 2016 May.
Article in English | MEDLINE | ID: mdl-27106971

ABSTRACT

BACKGROUND: Videolaryngoscopes are aggressively marketed, but independent evaluation in difficult airways is scarce. This multicentre, prospective randomized controlled trial evaluates six videolaryngoscopes in patients with a simulated difficult airway. METHODS: With ethics committee approval and written informed consent, 12 senior anaesthetists intubated the trachea of 720 patients. A cervical collar limited mouth opening and neck movement, making intubation difficult. We evaluated three unchannelled (C-MAC™ D-blade, GlideScope™, and McGrath™) and three channelled videolaryngoscopes (Airtraq™, A.P. Advance™ difficult airway blade, and KingVision™). The primary outcome was first-attempt intubation success rate. Secondary outcomes included overall success rate, laryngeal view, intubation times, and side-effects. The primary hypothesis for every videolaryngoscope was that the 95% confidence interval of first-attempt success rate is ≥90%. RESULTS: Mouth opening was decreased from 46 (sd 7) to 23 (3) mm with the cervical collar. First-attempt success rates were 98% (McGrath™), 95% (C-MAC™ D-blade), 87% (KingVision™), 85% (GlideScope™ and Airtraq™), and 37% (A.P. Advance™, P<0.01). The 95% confidence interval of first-attempt success rate was >90% only for the McGrath™. Overall success, laryngeal view, and intubation times differed significantly between videolaryngoscopes (all P<0.01). Side-effects were minor. CONCLUSIONS: This trial revealed differences in the performance of six videolaryngoscopes in 720 patients with restricted neck movement and limited mouth opening. In this setting, first-attempt success rates were 85-98%, except for the A.P. Advance™ difficult airway blade. Highest success and lowest tissue trauma rates were achieved by the McGrath™ and C-MAC™ D-blade, highlighting the importance of the videolaryngoscope blade design. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov: identifier NCT01692535.


Subject(s)
Intubation, Intratracheal/instrumentation , Laryngoscopes , Laryngoscopy/instrumentation , Adolescent , Adult , Aged , Aged, 80 and over , Anesthesia, General/methods , Double-Blind Method , Equipment Design , Female , Humans , Intubation, Intratracheal/adverse effects , Intubation, Intratracheal/methods , Laryngoscopes/adverse effects , Laryngoscopy/adverse effects , Laryngoscopy/methods , Male , Middle Aged , Prospective Studies , Video Recording , Young Adult
9.
Br J Anaesth ; 114(2): 281-9, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25481224

ABSTRACT

BACKGROUND: The safety of patient-controlled i.v. analgesia (PCA) with remifentanil for obstetrical analgesia remains a matter of concern. The efficacy of remifentanil bolus application, that is, the coincidence between pain and remifentanil effect-site concentration, may be improved by forecasting contractions, but it is not known whether such a technique would also improve safety. METHODS: We recorded pain intensity during labour continuously using a handheld dynamometer in 43 parturients. Using these data, we compared different models in their ability to predict future contractions. In addition, we modelled remifentanil effect-site concentration using three simulated modes of bolus administration, with and without prediction of future contractions. RESULTS: The average duration of pain during contractions recorded by the dynamometer was 45 [14 standard deviation (sd)] s. The time interval between painful contractions was highly variable, with a mean of 151 (31 sd) s during the first and 154 (52 sd) s during the second recording. Using a simple algorithm (three-point moving average), the sd of the difference between predicted and observed inter-contraction intervals can be reduced from 0.95 to 0.79 min. However, the coincidence between remifentanil concentration and pain during contraction is not substantially improved when using these models to guide remifentanil bolus application. CONCLUSIONS: Because of the large variability of inter-contraction intervals, the use of prediction models will not influence the mean remifentanil concentration in-between contractions. Using models predicting future contractions to improve the timing of remifentanil PCA bolus administration will not diminish the need of continuous clinical surveillance and other safety measures.


Subject(s)
Analgesia, Obstetrical/methods , Analgesia, Patient-Controlled/methods , Anesthetics, Intravenous/administration & dosage , Piperidines/administration & dosage , Adult , Anesthetics, Intravenous/pharmacokinetics , Female , Hand Strength/physiology , Humans , Labor Pain/physiopathology , Muscle Strength Dynamometer , Piperidines/pharmacokinetics , Pregnancy , Remifentanil , Uterine Contraction
11.
Int J Obstet Anesth ; 23(3): 246-52, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24934311

ABSTRACT

BACKGROUND: In obstetrics, post-dural puncture headache is a well-recognised complication. Typical symptoms include fronto-temporal or occipital headache, worsening with ambulation and improving in the decubitus position. Occasionally, patients present with non-postural headache, although relatively little is known about this atypical presentation. The purpose of this study was to determine the incidence, associated signs and risk factors for this atypical manifestation of post-dural puncture headache. METHODS: We analysed a series of 27 064 parturients having a neuraxial procedure between January 2001 and December 2010. Using data from electronic anaesthesia patient records, medical charts and a postpartum quality audit, we identified all parturients with atypical post-dural puncture headache. We assessed the incidence and used uni- and multivariate analysis to identify associated risk factors. RESULTS: Amongst 142 parturients with post-dural puncture headache, eight (5.6%, 95% CI 1.7-9.4%) had atypical non-postural headache. Associated symptoms were stiffness and pain in the cervical, thoracic or lumbar vertebral area, visual disturbances and vertigo. Significant risk factors for developing atypical signs were previous migraine, odds ratio 6.1 (95% CI 1.2-28.7), a more cephalad level of needle insertion, odds ratio 17.2 (95% CI 1.4-210.1) and identification of dural puncture by aspiration of cerebrospinal fluid from the epidural catheter, odds ratio 5.5 (95% CI 1.2-24.4). Following multivariate analysis, recognition of dural puncture by aspiration of cerebrospinal fluid from the epidural catheter was the most significant predictor of non-orthostatic postdural puncture headache. CONCLUSION: Anaesthetists should be aware of this atypical clinical presentation, particularly if there is a past history of migraine, a more cephalad level of needle insertion or identification of dural puncture by aspiration of cerebrospinal fluid from the epidural catheter.


Subject(s)
Post-Dural Puncture Headache/epidemiology , Adult , Anesthesia, Epidural/adverse effects , Anesthesia, Obstetrical/adverse effects , Anesthesia, Spinal/adverse effects , Cerebrospinal Fluid Leak , Cesarean Section , Databases, Factual , Delivery, Obstetric , Female , Humans , Incidence , Migraine Disorders/complications , Post-Dural Puncture Headache/diagnosis , Pregnancy , Risk Factors
13.
Pregnancy Hypertens ; 2(3): 182, 2012 Jul.
Article in English | MEDLINE | ID: mdl-26105228

ABSTRACT

INTRODUCTION: Severe hypertension is a common complication in pregnancy-associated hypertensive disorders and there is no clear consensus on which first-line antihypertensive drug to use in this setting. OBJECTIVES: To determine the efficacy and safety of four antihypertensive drugs (two intravenous and two oral) in pregnant women with severe hypertension. METHODS: Pilot prospective randomised study. INCLUSION CRITERIA: pregnant women with a gestational age >24weeks and admitted in the Obstetrics Department with severe hypertension defined as systolic blood pressure (SBP) ⩾165mmHg and/or diastolic blood pressure (DBP) ⩾105mmHg. The women were randomised in 4 groups to receive:-20mg intravenous labetalol;-5mg intravenous hydralazine;-10mg oral nifedipine tablets ;-10mg sublingual nifedipine. Treatment was repeated every 20mn until target SBP and DBP were reached (⩽150/⩽95mmHg). The primary endpoint was the time needed to achieve effective blood pressure control. Treatment failure was defined as the unability to reach the target BP within one hour. RESULTS: After giving informed consent, 41 pregnant women admitted with severe hypertension were randomised. Mean age was 35 years (SD 3.5), 65% were nulliparous and mean SBP and DBP at admission were 176 (SD 16) and 105 (SD 12)mmHg, respectively. Success to achieve target BP was reached in all patients within the oral 10mg nifedipine group (11 patients), in all but one patients with the 10mg sublingual group (12 patients), and only in 5 out of 9 patients and 6 out of 9 patients within the labetalol and hydralazine groups. They were only one hypotension (defined as SBP <120mmHg) in the two groups with intravenous drugs and 3 and 5 in the oral and sublingual nifedipine groups. CONCLUSION: These results indicate that oral nifedipine seems more effective than intravenous labetalol or hydralazine to reach BP control in pregnant patients with severe hypertension. A large scale randomized trial comparing oral nifedipine versus these commonly used intravenous antihypertensive drugs should be implemented in order to determine whether oral nifedipine is a more effective treatment in this population.

14.
Rev Med Suisse ; 7(314): 2070, 2072-4, 2076-7, 2011 Oct 26.
Article in French | MEDLINE | ID: mdl-22141305

ABSTRACT

In developed countries, cardiovascular diseases are becoming one of the first causes of maternal death. Myocardial infarction, dissection of the thoracic aorta and cardiomyopathies are the leading causes. However, preexisting maternal cardiac diseases, such as congenital heart diseases, are more commonly encountered and may be associated with significant maternal and perinatal morbidity. This article reviews hemodynamic changes occurring during pregnancy, proposes a risk stratification according to pre-existing cardiac diseases, and discusses the monitoring and overall management of these patients. Finally, two pregnancy-triggered cardiac diseases are discussed: coronary artery disease and peripartum cardiomyopathy.


Subject(s)
Patient Care Team , Pregnancy Complications, Cardiovascular/therapy , Pregnancy/physiology , Risk Assessment , Blood Pressure/physiology , Female , Humans , Pregnancy Complications, Cardiovascular/physiopathology , Stroke Volume/physiology
15.
Arch Pediatr ; 18 Suppl 2: S65-71, 2011 Jul.
Article in French | MEDLINE | ID: mdl-21763977

ABSTRACT

Neonatal resuscitation is one of the most cost-effective medical interventions, most often an emergency procedure involving a multidisciplinary team in the delivery room: doctors, nurses, midwives, obstetricians, anesthetists and other theatre staff. The success of resuscitation depends not only on individual competence but also on efficient teamwork between healthcare professionals in the delivery room; failure often results from the weakest link. Initiation of basic resuscitation procedures must be rapid and effective. Simple procedures must therefore be known by a large number of healthcare professionals, in fact all those potentially present at a delivery. Many complex neonatal diseases on the other hand are too infrequent for all to acquire sufficient personal experience. In addition, synchronization between the interventions of the different members in a perinatal team is complex. It is therefore necessary to train both individuals and teams to better manage perinatal crisis situations. The educational approach should remain multimodal, combining teaching of technical and non-techniques skills. Simulation of resuscitation scenarios can mimic emergency situations without any risk to the patient. It can be used for teaching and/or evaluation of the effectiveness of procedures and collaboration between actors. For maximum performance in complex pathologies, multidisciplinary teaching sessions are necessary. Simulation techniques adapted to neonatal resuscitation in the delivery room appear of great educational interest and proof of their efficiency gradually appears in literature.


Subject(s)
Delivery Rooms , Resuscitation/education , Certification , Humans , Infant, Newborn , Inservice Training , Manikins , Patient Care Team
16.
Anaesthesia ; 64(12): 1359-62, 2009 Dec.
Article in English | MEDLINE | ID: mdl-19839983

ABSTRACT

Various movement disorders such as dystonia may acutely develop during or at emergence from general anaesthesia in patients with or without pre-existing Parkinson disease. These movements are triggered by a variety of drugs including propofol, sevoflurane, anti-emetics, antipsychotics and opioids. The postulated mechanism involves an imbalance between dopaminergic and cholinergic neurotransmitters in the basal ganglia. We report an acute, severe and generalised dystonic reaction in an otherwise healthy woman at emergence from general anaesthesia, dramatically reversed by the administration of naloxone, pointing to a potential role of the fentanyl and morphine that the patient had received. Recent literature on the mechanisms of abnormal movements induced by opioids are discussed. The severity of the reaction with usual doses of opioids, in a patient with no prior history of parkinsonism, led to further investigation that demonstrated the possibility of an enhanced susceptibility to opioids, involving a genetically determined abnormal function of glycoproteine-P and catechol-O-methyltransferase.


Subject(s)
Anesthesia, General/adverse effects , Dystonic Disorders/chemically induced , Naloxone/therapeutic use , Parkinsonian Disorders/chemically induced , Postoperative Complications/chemically induced , Acute Disease , Adult , Dystonic Disorders/drug therapy , Female , Humans , Narcotic Antagonists/therapeutic use , Parkinsonian Disorders/drug therapy , Postoperative Complications/drug therapy
17.
Anaesthesia ; 63(12): 1358-64, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19032306

ABSTRACT

SUMMARY: Several indirect laryngoscopes have recently been developed, but relatively few have been formally compared. In this study we evaluated the efficacy and the usability of the Macintosh, the Glidescope, the McGrath and the Airtraq laryngoscopes. Sixty anaesthesia providers (20 staff, 20 residents, and 20 nurses) were enrolled into this study. The volunteers intubated the trachea of a Laerdal SimMan manikin in three simulated difficult airway scenarios. In all scenarios, indirect laryngoscopes provided better laryngeal exposure than the Macintosh blade and appeared to produce less dental trauma. In the most difficult scenario (tongue oedema), the Macintosh blade was associated with a high rate of failure and prolonged intubation times whereas indirect laryngoscopes improved intubation time and rarely failed. Indirect laryngoscopes were judged easier to use than the Macintosh. Differences existed between indirect devices. The Airtraq consistently provided the most rapid intubation. Laryngeal grade views were superior with the Airtraq and McGrath than with the Glidescope.


Subject(s)
Intubation, Intratracheal/instrumentation , Laryngoscopes , Adult , Airway Obstruction/complications , Attitude of Health Personnel , Cervical Vertebrae , Clinical Competence , Edema/complications , Humans , Immobilization , Laryngoscopy , Manikins , Middle Aged , Time Factors , Tongue Diseases/complications
18.
Br J Obstet Gynaecol ; 103(10): 1009-14, 1996 Oct.
Article in English | MEDLINE | ID: mdl-8863700

ABSTRACT

OBJECTIVE: To assess the relation between serum parameters and nuchal translucency in pregnancies affected by fetal aneuploidy in the first trimester. DESIGN: Retrospective study of different serum parameters collected prior to chorionic villus sampling and measurement of nuchal translucency in relation to fetal aneuploidy. SETTING: Switzerland (German and Italian sector) and Bregenz, Austria. POPULATION: One thousand one hundred and fifty-one women aged 25 to 44 years at 10 to 13 weeks of gestation undergoing chorionic villus sampling, mostly for advanced maternal age. Fetal aneuploidy was found in 23 pregnancies including four cases of trisomy 21, five of trisomy 18 and one case of trisomy 13. MAIN OUTCOME MEASURE: Fetal karyotype, serum levels of free beta-hCG, pregnancy-associated plasma protein A (PAPP-A) and alpha-fetoprotein and the measurement of nuchal translucency. RESULTS: Serum PAPP-A was decreased in all common chromosomal abnormalities. Free beta-hCG levels were increased in trisomy 21 but decreased in trisomy 18, whereas alpha-fetoprotein was low in trisomy 21, 18 and other chromosomal abnormalities. Nine of twenty-three abnormal embryos had evidence of an increased nuchal translucency. Nuchal translucency, however, did not seem to be associated with any alteration in the levels of the biochemical parameters in either chromosomally normal or abnormal embryos. A low serum PAPP-A or an increased nuchal translucency was seen in two-thirds of all pregnancies with chromosomal abnormalities. CONCLUSION: A nuchal translucency > or = 3 mm and depressed serum PAPP-A levels have a good predictive value in the detection of fetal aneuploidy at 10 to 13 weeks of pregnancy. Serum free beta-hCG and alpha-fetoprotein levels may give additional information. An increased nuchal translucency was not associated with altered serum parameters. This would allow these different markers to be used in combination.


Subject(s)
Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 18 , Neck/embryology , Prenatal Diagnosis/methods , Trisomy , Adult , Chorionic Gonadotropin, beta Subunit, Human/blood , Chorionic Villi Sampling , Down Syndrome/diagnosis , Female , Humans , Karyotyping , Pregnancy , Pregnancy Trimester, First , Pregnancy-Associated Plasma Protein-A/metabolism , Retrospective Studies , Sensitivity and Specificity
19.
Prenat Diagn ; 13(6): 513-8, 1993 Jun.
Article in English | MEDLINE | ID: mdl-8372077

ABSTRACT

For the last 6 years, sonographic signs for excessive fluid accumulation in the backs of 10- to 12-week-old fetuses have been looked for prior to transabdominal chorionic biopsy. In 1400 pregnancies, subsequent karyotype analyses revealed 28 cases of Down syndrome. In 15 (= 54 per cent), a large fluid cushion over most of the back had been documented at the time of biopsy. Only a few chromosomally normal fetuses with the same peculiarity were observed. The cushion was also present in fetuses with trisomies 18 and 13, and in Turner syndrome. Systematic first-trimester screening for nuchal fluid accumulation seems to be a recommended method for the detection of Down syndrome and other chromosome anomalies in young pregnant women at low risk. It compares favourably with current methods of maternal serum screening performed at 16-18 weeks which require a higher number of invasive procedures.


Subject(s)
Chromosome Aberrations/diagnostic imaging , Neck/diagnostic imaging , Ultrasonography, Prenatal , Chromosome Disorders , Down Syndrome/diagnostic imaging , Female , Humans , Mass Screening/methods , Pregnancy , Pregnancy Trimester, First , Retrospective Studies , Risk Factors
20.
Prenat Diagn ; 9(2): 127-31, 1989 Feb.
Article in English | MEDLINE | ID: mdl-2646626

ABSTRACT

A mother who had given birth to a child with Schwartz-Jampel syndrome (SJS) with neonatal manifestations (myotonia, congenital contractures, bowing of femora and tibiae) underwent ultrasonic fetal examination during the 17th and 19th week of her second pregnancy. Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations. In addition, there was mild bowing and shortening of the femora. At birth, the child presented with the characteristic pattern of SJS similar to her older brother. Prenatal ultrasonic diagnosis of Schwartz-Jampel syndrome is possible, at least for the form with neonatal onset of myotonia and contractures.


Subject(s)
Osteochondrodysplasias/diagnosis , Prenatal Diagnosis , Ultrasonography , Adult , Female , Fetal Movement , Humans , Infant, Newborn , Male , Osteochondrodysplasias/genetics , Pregnancy
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